patient_id
string
sex
string
race_ethnicity
string
geographic_region
string
residence_type
string
socioeconomic_status
string
primary_language
string
insurance_type
string
primary_disease_category
string
disease_class
string
orpha_code
int64
omim_number
int64
inheritance_pattern
string
disease_severity_index
float64
expected_mortality_by18_untreated
float64
age_at_symptom_onset_yrs
float64
age_at_diagnosis_yrs
float64
diagnostic_delay_years
float64
prior_misdiagnoses_count
int64
specialists_seen_count
int64
pcp_visits_count
int64
er_visits_pre_diagnosis
int64
hospitalization_pre_diagnosis
int64
newborn_screening_eligible
int64
newborn_screening_caught
int64
newborn_screening_age_at_flag_days
float64
genetic_test_modality
string
time_to_genetic_test_months
float64
genetic_test_insurance_denial_flag
int64
genetic_test_cost_usd
int64
pathogenic_variant_confirmed
int64
diagnosis_source
string
diagnostic_odyssey_cost_usd
float64
parent_self_advocacy_score
float64
developmental_milestones_status
string
gross_motor_quotient
float64
fine_motor_quotient
float64
expressive_language_quotient
float64
receptive_language_quotient
float64
cognitive_quotient
float64
autism_spectrum_comorbid_flag
int64
adhd_comorbid_flag
int64
seizure_flag
int64
seizure_onset_age_yrs
float64
seizure_medications_count
int64
cardiac_involvement_flag
int64
lvh_severity
string
respiratory_involvement_flag
int64
fvc_pct_predicted
float64
niv_use_flag
int64
tracheostomy_flag
int64
gi_involvement_flag
int64
g_tube_flag
int64
hepatic_involvement_flag
int64
renal_involvement_flag
int64
ophthalmologic_involvement_flag
int64
hearing_loss_flag
int64
skeletal_involvement_flag
int64
short_stature_zscore
float64
bmi_zscore
float64
plasma_amino_acids_abnormal
int64
urine_organic_acids_abnormal
int64
acylcarnitine_profile_abnormal
int64
urine_gag_elevated
int64
chitotriosidase_u_l
float64
lyso_gb1_ng_ml
float64
lyso_gb3_ng_ml
float64
gaa_activity_nmol_hr_mg
float64
gla_activity_nmol_hr_mg
float64
ammonia_umol_l
float64
lactate_mmol_l
float64
pyruvate_mmol_l
float64
ck_u_l
float64
ldh_u_l
float64
ast_u_l
float64
ferritin_ng_ml
float64
soluble_il2r_u_ml
float64
orphan_drug_available_for_condition
int64
treatment_received
string
ert_product
string
gene_therapy_product
string
aso_product
string
small_molecule_product
string
treatment_start_age_yrs
float64
treatment_delay_from_dx_months
float64
treatment_cost_annual_usd
float64
payer_coverage_status
string
appeal_submitted_flag
int64
appeal_success_flag
int64
time_to_treatment_access_months
float64
patient_assistance_program_enrolled_flag
int64
copay_out_of_pocket_annual_usd
float64
icer_value_assessment
string
qaly_estimate_per_year
float64
treatment_adherence_pct
float64
infusion_reaction_flag
int64
antidrug_antibody_flag
int64
treatment_efficacy_response
string
hsct_performed_flag
int64
hsct_donor_type
string
hsct_gvhd_flag
int64
hsct_engraftment_success_flag
int64
disease_progression_velocity
string
hospitalization_annual_count
int64
hospitalization_days_annual
int64
metabolic_crisis_count
int64
icu_admission_flag
int64
respiratory_failure_event_flag
int64
ambulation_status_age18
string
communication_status_age18
string
g_tube_dependent_age18
int64
ventilator_dependent_age18
int64
school_placement
string
iep_504_plan_flag
int64
therapies_received_count
int64
mortality_flag
int64
age_at_death_yrs
float64
cause_of_death
string
hospice_palliative_care_flag
int64
caregiver_zarit_score
float64
caregiver_phq9_score
float64
caregiver_gad7_score
float64
caregiver_employment_disruption_flag
int64
caregiver_lost_income_annual_usd
float64
caregiver_sleep_hours_per_night
float64
household_out_of_pocket_annual_usd
float64
ped_qol_total
float64
ped_qol_physical
float64
ped_qol_emotional
float64
ped_qol_social
float64
ped_qol_school
float64
sibling_impact_score
float64
marital_strain_flag
int64
divorce_separation_flag
int64
parent_advocacy_group_member_flag
int64
social_media_rare_community_engagement_flag
int64
clinical_trial_participation_flag
int64
natural_history_study_enrollment_flag
int64
patient_registry_enrollment_flag
int64
distance_to_specialty_center_miles
float64
travel_burden_days_per_year
int64
telehealth_use_flag
int64
language_barrier_interpretation_needed_flag
int64
immigration_status_concern_flag
int64
food_insecurity_flag
int64
housing_instability_flag
int64
transportation_barrier_flag
int64
missed_appointments_annual_count
int64
sdoh_composite_risk_score
float64
HCG5-0000200
Male
Black_non_Hispanic
Latin_America
Urban
Middle
Spanish
TRICARE
Achondroplasia
SKEL
15
100,800
AD
3.11
0.04
0.079
1.325
1.246
1
3
20
1
0
0
0
null
Single_gene
18.94
0
800
0
Metabolic_specialist
24,789.88
5.43
Delayed
105.4
120
97.8
86.8
71.4
1
0
1
3.3
0
0
null
1
125
0
0
0
0
0
0
0
0
1
-0.64
1.03
0
0
0
0
72.69
6.483
6.65
2.63
5.82
23.5
3.11
0.078
530.3
453.5
43.7
50.1
1,185.9
0
Small_molecule
null
null
null
Supportive_metabolic
2.48
27.38
199,064
Denied
0
0
13.74
1
2,077
Intermediate
0.355
0.616
0
0
Responder
0
null
0
0
Stable
3
16
1
1
0
Ambulatory
Verbal
1
0
Mainstream_with_support
1
0
1
15.78
Respiratory_failure
1
40.1
10.9
14.6
1
26,583
4.9
3,876
69.2
58.2
65.4
45.9
64.5
37.1
0
1
1
0
0
0
1
126.2
15
1
0
0
0
0
0
5
0.35
HCG5-0000201
Male
Black_non_Hispanic
Sub_Saharan_Africa
Rural
Middle
Other
Medicaid
22q11_2_DiGeorge
SYN
567
188,400
AD
4.85
0.08
0.209
4.704
4.495
7
11
13
2
0
0
0
null
WES
2.7
0
4,500
1
NBS_followup
56,647.75
6.12
Delayed
66.9
68.9
74.5
67.3
104.5
0
1
0
1.47
1
1
Moderate
0
113.7
0
0
0
0
0
0
0
0
0
-1.19
0.97
0
0
0
0
280.57
11.779
29.232
2.53
7.84
45
3.01
0.098
686.7
575.1
57.7
3,604.4
1,733.4
0
Supportive_only
null
null
null
null
null
20.45
0
Fully_covered
0
0
5.76
0
1,220
Low_value
0.482
null
0
0
Not_applicable
0
null
0
0
Slow_progression
2
32
1
0
0
Assisted
Limited_verbal
0
0
Mainstream
1
5
1
18
Respiratory_failure
1
24.3
17
17.8
1
20,359
3.3
3,031
57.9
53.4
57.5
49.3
52.8
57.4
0
0
1
1
1
0
0
63.4
13
0
1
0
0
0
0
1
1.15
HCG5-0000202
Male
Hispanic
North_America
Rural
Middle
Other
Commercial
MERRF
MITO
551
545,000
MT
7.76
0.22
10.235
18
8.925
3
9
21
4
0
0
0
null
Karyotype
4.76
0
1,200
1
Geneticist
7,809.24
8.09
Regression
55.2
35.7
57.3
76.3
46.6
0
1
0
3
1
0
null
1
60.4
1
0
1
1
0
0
1
1
0
-0.5
0.02
0
0
0
0
370.77
48.352
10.012
3.81
1.11
27.4
1.68
0.233
169.7
147.2
17.4
36.5
1,475
0
Supportive_only
null
null
null
null
null
7.44
0
Fully_covered
0
0
10.37
0
316
Intermediate
0.329
null
0
0
Not_applicable
0
null
0
0
Slow_progression
1
12
0
1
1
Wheelchair
AAC_device
1
0
Home_school_medical
0
0
1
18
Cardiac
1
66.4
14.4
17.2
0
0
5.2
6,737
65.7
47.1
51.5
42.3
26.2
30.9
0
0
1
1
0
0
1
507.9
15
1
1
0
0
0
0
2
0.57
HCG5-0000203
Female
Hispanic
Europe
Urban
High
Spanish
Commercial
Pompe_infantile
LSD
365
232,300
AR
7.6
0.85
0.028
0.028
0
0
2
8
1
0
1
1
10.1
Metabolic
0.72
0
900
1
NBS_followup
6,783.77
7.02
Regression
46.9
42.4
53.8
54.1
93.5
0
0
0
3.39
8
1
Moderate
0
98.6
0
0
0
1
0
0
1
1
1
-1.77
-0.93
0
0
0
0
132.22
14.4
6.216
4.36
2.25
20
1.9
0.148
50.6
156.1
61.4
1,764.5
21,392.5
1
ERT
Avalglucosidase_alfa
null
null
null
2.01
2.09
582,504
Denied
1
1
7.08
1
2,279
Intermediate
0.253
0.747
0
0
Non_responder
0
null
0
0
Slow_progression
7
19
2
0
0
Wheelchair
AAC_device
1
0
Special_ed
1
5
1
6.85
Cardiac
1
25.4
15.5
9.3
1
21,553
5.2
4,435
58.9
10.2
54.4
61.2
54.3
52.7
1
0
1
1
1
1
1
4.1
18
1
1
0
0
0
1
1
2.65
HCG5-0000204
Male
White_non_Hispanic
Europe
Urban
Middle
Other
Medicaid
Gaucher_type1
LSD
355
230,800
AR
6.07
0.05
1.572
5.179
3.607
3
11
5
3
1
0
0
null
Karyotype
24.21
0
1,200
0
Neurologist
52,840.86
3.83
Regression
58.3
71.3
77.7
75.3
70.4
1
0
0
2.33
8
0
null
1
65.4
0
0
1
0
0
0
0
1
1
0.02
-1.03
0
0
1
0
327.41
17.115
6.904
8.99
4.48
200.5
1.29
0.218
175
158.7
53.8
239.4
780.6
1
ERT
Velaglucerase
null
null
null
5.36
2.67
158,791
Prior_auth_required
0
0
26.79
0
291
Intermediate
0.325
0.77
0
0
Responder
0
null
0
0
Stable
5
47
2
1
0
Wheelchair
AAC_device
0
1
Home_school_medical
1
4
0
null
null
0
59.3
18.1
13.5
0
0
4.5
2,211
66.1
78.7
64.3
88.4
52.5
45.2
0
0
0
1
0
0
1
2.8
10
1
1
0
1
0
0
5
3.08
HCG5-0000205
Female
White_non_Hispanic
Sub_Saharan_Africa
Suburban
Middle
English
Medicaid
MPS_III_Sanfilippo
LSD
581
252,900
AR
8.43
0.7
3.047
6.372
3.325
3
9
15
8
0
0
0
null
WES
16.54
0
4,500
1
Geneticist
18,923.69
7.21
Profound_delay
48.2
56.9
68.3
54.8
47.6
1
0
0
0.8
2
0
null
1
53
0
0
1
0
0
0
1
1
1
-3.28
-2.12
0
0
0
1
183.57
29.079
4.054
4.85
3.2
64.3
1.9
0.193
101.4
294.7
59.9
200.1
4,152.4
0
Supportive_only
null
null
null
null
null
13.13
0
Prior_auth_required
0
0
10.9
0
387
Intermediate
0.489
null
0
0
Not_applicable
0
null
0
0
Stable
14
20
0
0
1
Bedbound
Nonverbal
1
1
Mainstream_with_support
1
1
1
12.53
Cardiac
1
43.2
16.5
8.8
1
156,624
6.3
10,226
39.7
52.9
51.3
21.6
32.4
50.5
0
0
1
0
0
0
1
41.5
4
0
0
0
0
1
1
4
4.81
HCG5-0000206
Female
Black_non_Hispanic
North_America
Suburban
High
English
Medicaid
Pompe_infantile
LSD
365
232,300
AR
8.48
0.85
0.017
0.017
0
0
4
6
1
0
1
1
6.1
Karyotype
1.88
0
1,200
1
NBS_followup
24,792.04
6
Profound_delay
75.5
51.4
34.6
64.3
10.8
1
0
1
1.08
2
1
Moderate
1
71.6
0
0
0
1
0
0
0
0
1
-1.88
-0.11
0
0
1
0
47.74
12.14
2.089
2.48
1.1
20
4.13
0.183
230.4
169.1
49.1
467.9
330.5
1
ASO
null
null
Custom_ASO
null
0.47
4.74
863,142
Partial_coverage
0
0
9.65
0
15,103
Intermediate
0.584
0.76
0
0
Responder
0
null
0
0
Stable
7
4
1
0
1
Bedbound
Nonverbal
1
0
Home_school_medical
1
6
0
null
null
0
36
9.9
5.4
1
100,651
5
19,410
38.7
26.6
17.3
71.8
100
19.5
0
0
0
1
1
1
1
222.3
5
0
0
0
0
0
0
1
0.72
HCG5-0000207
Female
White_non_Hispanic
Europe
Urban
Low
English
Commercial
MLD
LD
512
250,100
AR
9.82
0.7
0.013
0.013
0
0
3
18
1
0
1
1
4.7
Panel
1.07
1
1,500
0
NBS_followup
14,856.99
4.15
Profound_delay
52.7
23
48.5
19.3
89.7
1
0
1
1.03
4
0
null
0
84.6
0
0
0
0
0
0
1
0
0
-3.03
-1.38
0
0
0
0
264.68
3.687
2.647
25.79
6.58
20
3.69
0.113
135.2
678.7
57.6
87.2
693.7
1
HSCT
null
null
null
null
0.44
5.37
311,147
Partial_coverage
0
0
9.34
1
8,450
Intermediate
0.191
0.42
0
0
Responder
1
Cord
0
1
Slow_progression
3
8
3
1
0
Bedbound
Nonverbal
1
1
Home_school_medical
1
3
0
null
null
0
36.5
24.2
10.3
0
0
4.7
11,492
43.8
20.6
51.4
68
14.3
61
0
0
0
1
0
0
1
46
25
0
0
0
0
0
0
1
0
HCG5-0000208
Male
White_non_Hispanic
Latin_America
Urban
Low
English
Medicaid_CHIP
Pompe_infantile
LSD
365
232,300
AR
8.04
0.85
0.003
0.003
0
0
4
15
3
0
1
1
1.2
MLPA
0.5
0
1,000
1
NBS_followup
61,177.17
6.07
Profound_delay
62.6
71.2
16.5
51.5
53.3
0
0
0
5.77
5
1
Mild
1
32.7
1
0
0
1
1
0
0
0
1
-0.31
-1.1
0
0
1
0
134.22
11.344
12.694
3.62
8.76
20
3.11
0.17
32.7
330.4
33.4
580.3
1,327.2
1
ERT
Alglucosidase_alfa
null
null
null
1.58
9.2
843,076
Fully_covered
0
0
36
1
1,449
Intermediate
0.386
0.648
0
1
Partial
0
null
0
0
Stable
4
27
1
0
0
Bedbound
Nonverbal
0
1
Home_school_medical
0
2
1
14.57
Cardiac
1
49.1
2
15.1
1
108,374
4.7
7,173
61.1
58.2
37.5
57.6
55.9
90.8
1
0
1
1
0
0
1
34.4
7
1
0
0
0
0
0
13
0
HCG5-0000209
Male
White_non_Hispanic
North_America
Urban
Middle
English
Commercial
MERRF
MITO
551
545,000
MT
9.24
0.22
11.899
13.982
2.083
1
12
9
0
0
0
0
null
WES
48.82
0
4,500
1
Geneticist
35,217.37
8.18
Profound_delay
31.8
79.5
10
37.2
10
1
1
0
1.07
3
0
null
0
98.6
0
0
1
1
0
0
0
0
0
-1.3
0.6
0
0
0
0
13.27
19.913
22.297
2.17
2.57
20
3.96
0.183
1,119.2
496.5
61
629
1,586.1
0
Supportive_only
null
null
null
null
null
6.34
0
Partial_coverage
0
0
6.43
0
196
Intermediate
0.41
null
0
0
Not_applicable
0
null
0
0
Moderate
5
18
2
1
0
Bedbound
Nonverbal
1
1
Mainstream
1
6
0
null
null
0
44.3
19.2
10
0
0
4.1
5,555
53.8
42.5
74.8
45.5
54.8
45.8
1
0
0
1
0
0
0
6.8
10
1
0
0
1
0
0
3
0.66
HCG5-0000210
Female
Hispanic
Asia_Pacific
Rural
High
English
Commercial
X_ALD
LD
43
300,100
XLR
7.29
0.55
0.015
0.015
0
0
2
9
2
0
1
1
5.3
Panel
0.55
0
1,500
1
NBS_followup
33,409.57
7.7
Regression
36.5
55.4
87.3
65
79.5
1
0
0
4.18
8
1
Moderate
0
101.5
0
0
0
1
0
0
1
0
0
-0.38
2.3
0
0
0
0
122.64
33.839
117.571
0.99
6.79
158.6
1.79
0.399
206.7
285.4
99.6
247.9
1,374.1
1
ASO
null
null
Custom_ASO
null
0.07
1.46
193,120
Fully_covered
0
0
7.75
1
2,004
Intermediate
0.17
0.778
0
0
Responder
0
null
0
0
Stable
2
26
0
0
0
Wheelchair
AAC_device
1
0
Mainstream_with_support
1
3
0
null
null
0
47.9
15.8
18.1
0
0
5.1
10,781
65.8
50.4
65.5
69.2
40.3
27.8
0
0
1
1
0
0
1
39
15
1
1
0
0
0
0
4
0.73
HCG5-0000211
Female
Hispanic
North_America
Urban
Low
Spanish
Commercial
SMA_type2
NM
83,418
253,550
AR
7.18
0.25
0.016
0.016
0
0
4
7
1
0
1
1
5.7
WES
1.68
1
4,500
1
NBS_followup
9,389.45
6.4
Regression
60.3
89.9
42.7
58.2
57.3
0
0
0
3.38
2
1
Severe
1
51.8
1
1
0
1
0
0
0
1
0
-3.48
0.2
1
1
0
0
33.33
18.435
11.737
4.82
20.62
136.7
1.1
0.144
164.7
551.4
31.6
322.2
1,637
1
Supportive_only
null
null
null
null
null
2.31
0
Fully_covered
0
0
7.35
0
104
High_value
0.501
null
0
0
Not_applicable
0
null
0
0
Stable
10
14
0
1
1
Wheelchair
AAC_device
1
0
Not_enrolled
1
1
0
null
null
0
19.9
20.6
11.2
0
0
5.1
3,462
36.9
54.5
76.4
55.3
52.4
63.5
1
0
0
1
0
1
1
30.5
0
1
1
0
1
0
0
3
4.41
HCG5-0000212
Male
Black_non_Hispanic
MENA
Rural
Low
Mandarin
Other_public
MPS_II_Hunter
LSD
580
309,900
XLR
9.85
0.72
0.854
5.199
4.344
6
14
12
0
0
0
0
null
WGS
9.85
0
8,500
1
Geneticist
42,249.8
7.78
Profound_delay
58.4
55.4
36.3
24.3
22.4
0
0
0
5.92
5
1
Moderate
1
61.8
1
0
0
1
1
0
1
1
1
-2.52
-0.57
0
0
1
1
52.9
33.336
3.85
7.79
13.1
20
2.03
0.222
65
136.7
32.4
2,043.9
907.8
1
ERT
Idursulfase
null
null
null
5.74
2.37
104,514
Fully_covered
0
0
1.14
0
2,048
High_value
0.401
0.56
0
0
Responder
0
null
0
0
Stable
0
19
1
0
0
Bedbound
Nonverbal
1
1
Special_ed
1
6
0
null
null
0
21
12.6
6.1
1
8,132
5.5
13,925
21.4
40
41.9
45.1
50.1
39
0
0
1
0
0
0
1
45.3
3
0
0
0
0
0
0
1
0
HCG5-0000213
Male
White_non_Hispanic
Latin_America
Urban
Low
English
Commercial
SCID
IMM
183
300,400
XLR
9.21
0.92
0.021
0.021
0
0
2
9
0
0
1
1
7.8
Panel
1.94
0
1,500
1
NBS_followup
11,014.95
5
Profound_delay
71.1
85
10
33.7
67.1
1
1
1
4.54
2
0
null
0
109.1
0
0
1
1
0
0
0
0
0
-3.94
-0.43
0
1
0
0
141.32
51.021
11.874
1.8
2.67
247.8
2.12
0.157
138.3
356.2
69.5
500.8
6,552.3
1
Supportive_only
null
null
null
null
null
4.48
0
Prior_auth_required
0
0
7.27
0
456
Cost_saving
0.251
null
0
0
Not_applicable
0
null
0
0
Slow_progression
2
7
4
0
0
Bedbound
Nonverbal
1
1
Special_ed
1
0
1
0.91
Respiratory_failure
0
23.9
10.8
9.9
1
12,599
6.3
1,667
38.4
0
70.5
13.5
40.3
52.9
0
1
0
1
1
0
1
46.7
13
1
0
0
1
1
0
3
3.66
HCG5-0000214
Female
White_non_Hispanic
North_America
Rural
High
English
Commercial
Canavan
LD
141
271,900
AR
10
0.82
0.1
3.627
3.527
0
14
13
3
1
0
0
null
Single_gene
6.02
0
800
0
Immunologist
14,872.99
4.17
Profound_delay
10
47
10
66.3
10
0
0
1
3.06
6
0
null
0
86.9
0
0
0
1
1
1
0
0
0
-1.37
1.42
1
0
0
0
168.14
60.856
22.934
7.39
1.23
86.8
3.34
0.125
86.8
468.9
30.3
103.5
664.9
0
Supportive_only
null
null
null
null
null
11.01
0
Fully_covered
0
0
16.69
0
433
Intermediate
0.333
null
0
0
Not_applicable
0
null
0
0
Stable
6
40
4
0
0
Bedbound
Nonverbal
1
0
Mainstream_with_support
1
4
1
7.89
Metabolic_crisis
1
61.2
7.4
8.3
1
33,788
7.6
1,049
33.3
26.8
30.7
57.2
27.6
41.6
0
0
1
1
0
0
1
116.8
31
1
0
0
0
1
0
6
2.67
HCG5-0000215
Male
Black_non_Hispanic
Asia_Pacific
Urban
Low
Spanish
Commercial
OI_type1_to_4
SKEL
666
166,200
AD
3.16
0.06
0.714
6.838
6.124
1
14
6
3
1
0
0
null
WGS
31.58
0
8,500
1
Neurologist
7,872.94
8.12
Delayed
123.5
83
62.9
47.3
66
0
0
0
3.87
6
0
null
0
78.2
0
0
0
0
0
0
0
0
1
-2.31
0.22
0
0
0
0
78.65
25.922
30.789
4.79
4.08
48.6
3.02
0.234
58.4
489.1
27
558.7
3,806.5
1
Supportive_only
null
null
null
null
null
10.53
0
Partial_coverage
0
0
10.63
0
664
Intermediate
0.516
null
0
0
Not_applicable
0
null
0
0
Slow_progression
2
7
3
1
0
Ambulatory
Verbal
0
0
Special_ed
1
2
1
15.04
Respiratory_failure
1
64.8
5.6
16.4
1
25,339
7
11,088
45.2
66.7
65.3
91
55.3
24.7
1
0
0
1
0
1
1
33.8
13
1
1
1
1
1
1
3
10
HCG5-0000216
Female
White_non_Hispanic
North_America
Urban
Middle
English
Commercial
Pompe_infantile
LSD
365
232,300
AR
8.47
0.85
0.026
0.026
0
0
4
7
2
0
1
1
9.4
Metabolic
4.37
0
900
0
NBS_followup
23,367.76
3.27
Profound_delay
52.5
63.5
54.2
58.4
44.3
0
0
0
1.03
0
1
Severe
1
39.4
1
0
1
1
0
0
1
1
1
-0.89
-0.09
1
0
1
0
307.14
7.977
28.214
1.08
27.45
122.3
4.08
0.352
297.5
311.4
60.1
135.4
3,560.4
1
ERT
Alglucosidase_alfa
null
null
null
2.16
36.79
117,236
Partial_coverage
0
0
26.05
0
5,719
Low_value
0.596
0.695
0
0
Partial
0
null
0
0
Slow_progression
0
22
5
0
1
Bedbound
Nonverbal
1
1
Mainstream_with_support
0
5
1
1.2
Cardiac
0
45.1
12.5
13.6
1
28,069
3.9
2,052
45.1
52.5
37.7
23.4
30.4
56.7
0
0
1
1
0
0
0
21.4
8
1
0
0
0
0
0
1
0
HCG5-0000217
Male
Black_non_Hispanic
Europe
Rural
High
English
Commercial
Pompe_infantile
LSD
365
232,300
AR
9.48
0.85
0.02
0.02
0
0
2
6
5
0
1
1
7.3
WES
2.97
0
4,500
1
NBS_followup
70,124.39
6.76
Profound_delay
54.8
33
22.8
62
63.8
0
1
1
2.93
3
1
Mild
1
49.4
0
0
0
1
0
0
0
1
1
-1.76
0.02
0
0
0
0
161.66
7.239
20.399
7.39
11.07
87
0.66
0.184
139.4
155.2
33.1
109.4
700.8
1
Small_molecule
null
null
null
Supportive_metabolic
0.63
2.12
17,004
Fully_covered
0
0
13.56
1
630
Intermediate
0.481
0.924
0
0
Responder
0
null
0
0
Slow_progression
6
44
3
1
0
Bedbound
Nonverbal
1
1
Home_school_medical
1
1
1
10.72
Neurodegeneration
1
60
8.8
11.1
0
0
6.9
2,820
23.3
27.1
64.3
31.4
71.4
41.5
1
0
0
1
0
0
0
55.7
0
0
0
0
0
0
0
3
1.19
HCG5-0000218
Female
Hispanic
Europe
Rural
Low
English
Uninsured
CDKL5_encephalopathy
SYN
3,095
300,672
XLD
9.8
0.22
0.603
5.424
4.821
0
15
15
2
0
0
0
null
Single_gene
12.91
0
800
1
Geneticist
32,992.17
8.64
Profound_delay
10
47
24.4
47.3
92.5
0
0
1
1.12
1
0
null
0
121.8
0
0
0
1
0
0
0
0
0
-4.36
-2.69
0
0
0
0
118.63
7.872
13.273
3.63
3.3
45.4
1.38
0.126
600.8
605.3
105.1
430.1
1,252.6
0
Supportive_only
null
null
null
null
null
13.97
0
Fully_covered
0
0
10.5
0
3,093
Cost_saving
0.763
null
0
0
Not_applicable
0
null
0
0
Moderate
12
6
0
0
0
Bedbound
Nonverbal
1
0
Mainstream
1
4
0
null
null
0
54.7
9.7
15.2
1
152,947
7.1
2,126
35.5
34.9
85.1
39
59.7
27.3
0
0
1
1
0
1
1
53.5
12
0
0
0
0
1
0
3
1.47
HCG5-0000219
Female
White_non_Hispanic
Asia_Pacific
Urban
Middle
English
Medicaid_CHIP
OTC
UCD
664
311,250
XLR
8.92
0.52
0.178
1.349
1.17
2
8
9
1
0
0
0
null
WES
7.13
0
4,500
1
Cardiologist
18,076.38
4.83
Profound_delay
37.7
70
21.9
79.4
42.9
0
0
1
4.06
1
0
null
1
50.6
1
0
0
1
0
0
0
0
1
-3.79
0.22
1
0
1
0
189.31
8.437
23.644
1.82
13.55
26.2
2.11
0.199
158.8
300
32.3
80.6
1,803.6
1
Small_molecule
null
null
null
Supportive_metabolic
1.76
4.2
950,862
Fully_covered
0
0
14.88
1
13,034
High_value
0.621
0.794
0
0
Responder
0
null
0
0
Stable
6
29
2
0
1
Bedbound
Nonverbal
0
1
Special_ed
1
3
1
12.31
Other
1
65.5
7.3
7.4
1
23,050
6.7
10,900
30.3
61.5
60.8
44.8
44.3
56.8
0
0
0
1
0
0
0
14.2
12
1
0
0
0
0
1
3
1.04
HCG5-0000220
Female
White_non_Hispanic
North_America
Urban
Middle
English
Commercial
MMA
OA
27
251,000
AR
8.31
0.45
0.013
0.013
0
0
4
17
0
1
1
1
4.7
Single_gene
12
1
800
1
NBS_followup
29,680.09
4.7
Profound_delay
60.8
64
66.3
63.8
61.9
1
0
0
1.15
2
0
null
0
95.9
0
0
1
1
1
0
0
0
0
-1.7
-1.8
1
1
0
0
604.9
24.275
4.194
9.64
9.51
31.5
2.97
0.185
280.8
313.3
25.2
257.5
9,656.8
0
Supportive_only
null
null
null
null
null
72
0
Fully_covered
0
0
9.28
0
17,600
Cost_saving
0.519
null
0
0
Not_applicable
0
null
0
0
Slow_progression
1
32
2
1
0
Bedbound
Nonverbal
1
0
Home_school_medical
1
3
0
null
null
0
65.5
19.7
5.4
0
0
5.3
2,704
28.2
68.2
26.9
37.3
27.8
97.6
0
0
1
1
0
1
1
82.4
3
0
0
0
1
0
0
0
0.73
HCG5-0000221
Male
White_non_Hispanic
North_America
Urban
High
Mandarin
Commercial
MELAS
MITO
550
540,000
MT
8.27
0.28
2.091
5.061
2.97
0
11
17
1
0
0
0
null
Panel
4.09
0
1,500
1
Geneticist
29,532.68
6.85
Profound_delay
25.1
48.1
60.3
53.5
112.5
0
0
0
2.83
0
1
Moderate
1
47.9
0
1
1
1
0
0
1
1
0
-1.24
0.23
0
0
1
0
21.11
121.352
1.999
9.49
0.6
20
7.82
0.401
271.4
1,107.2
44.6
513.4
1,249.9
0
Small_molecule
null
null
null
Supportive_metabolic
5.41
8.88
125,332
Prior_auth_required
0
0
5.19
1
4,084
Cost_saving
0.294
0.743
0
0
Non_responder
0
null
0
0
Moderate
1
47
1
0
1
Bedbound
Nonverbal
1
0
Home_school_medical
1
4
0
null
null
0
31.3
9.1
4.8
1
33,212
7.6
24,103
27.2
46.8
42.6
77.1
37.3
67.9
1
1
0
1
0
0
1
13.6
37
0
1
0
0
0
1
3
5.2
HCG5-0000222
Male
Asian
Asia_Pacific
Urban
Middle
Spanish
Commercial
Myotonic_congenital
NM
590
160,900
AD
6.07
0.1
2.017
3.978
1.961
2
7
13
1
1
0
0
null
Single_gene
26.61
0
800
1
Other
28,551.42
7.39
Regression
10
66.2
47.3
51.7
64.9
0
0
0
1.94
1
1
Mild
0
79
0
0
0
0
0
0
0
0
0
-4.46
-1.58
0
0
0
0
664.83
26.862
80.152
1.79
8.63
20
1.24
0.222
388.3
383.1
60.6
1,999.6
50,000
0
Supportive_only
null
null
null
null
null
5.38
0
Partial_coverage
0
0
5.96
0
6,363
Intermediate
0.624
null
0
0
Not_applicable
0
null
0
0
Slow_progression
2
6
0
1
0
Wheelchair
AAC_device
0
0
Home_school_medical
1
2
0
null
null
0
49.6
15.2
1.4
0
0
4.7
12,940
37.2
64.6
100
96.5
36.8
49.2
0
0
1
1
1
0
0
111.9
3
1
0
0
0
0
0
2
0
HCG5-0000223
Female
Black_non_Hispanic
Europe
Urban
Middle
Spanish
Medicaid_CHIP
Williams
SYN
904
194,050
AD
1.93
0.04
0.117
2.375
2.258
0
11
13
7
0
0
0
null
WES
15.38
0
4,500
1
NBS_followup
31,558.59
4.39
On_track
93.5
102.4
100.9
95.1
99.1
0
1
0
1.81
1
1
Mild
1
35.7
0
0
1
0
1
0
0
0
0
-1.9
0.55
0
0
0
0
97.84
20.582
11.678
5.67
3.69
455
1.45
0.114
89.2
281.6
55.9
493.8
3,896.7
0
Supportive_only
null
null
null
null
null
13.49
0
Partial_coverage
0
0
0.78
0
3,175
Intermediate
0.282
null
0
0
Not_applicable
0
null
0
0
Moderate
3
45
1
0
0
Ambulatory
Verbal
0
0
Mainstream
1
2
0
null
null
0
55.5
10.8
4.2
0
0
7.1
7,819
74.5
66.3
83.7
70.1
57.9
95.1
0
0
1
1
0
0
0
30.6
6
1
0
0
0
0
0
5
0.01
HCG5-0000224
Male
White_non_Hispanic
Europe
Rural
Low
English
Commercial
MMA
OA
27
251,000
AR
9.23
0.45
0.015
0.015
0
0
4
17
4
1
1
1
5.6
Panel
1.04
0
1,500
1
NBS_followup
10,551.31
3.83
Profound_delay
39.1
56.5
30.2
53
19.2
0
0
0
1.42
4
0
null
1
57.2
0
0
1
1
0
1
0
0
0
-3.02
-0.64
1
1
1
0
83.19
52.757
19.698
5.27
1.52
20
1.73
0.275
719.8
273.3
65.2
48.6
2,549.1
0
Small_molecule
null
null
null
Supportive_metabolic
1.84
12.39
671,548
Fully_covered
0
0
28.09
1
3,521
Intermediate
0.554
0.602
0
0
Responder
0
null
0
0
Moderate
4
39
4
1
0
Bedbound
Nonverbal
1
1
Special_ed
1
2
0
null
null
0
61.4
15.9
14.1
0
0
7
29,714
41.8
51.4
38.8
36.4
6.5
24.3
0
0
1
1
0
0
1
15.6
8
0
0
0
1
0
0
3
3.87
HCG5-0000225
Male
Asian
North_America
Urban
Middle
Mandarin
Commercial
CDKL5_encephalopathy
SYN
3,095
300,672
XLD
7.49
0.22
0.279
2.581
2.302
2
10
14
1
0
0
0
null
Single_gene
13.27
0
800
1
Other
29,610.51
7.41
Regression
77.2
67.8
40.4
51.4
99.6
0
0
1
5.62
4
0
null
1
43.6
1
0
0
0
1
0
1
0
0
-3.13
-2.23
0
1
0
0
121.25
10.531
0.979
4.24
3.6
20
1.42
0.225
59.4
504
30.3
57.7
4,377.4
0
Supportive_only
null
null
null
null
null
6.57
0
Partial_coverage
0
0
5.59
0
147
High_value
0
null
0
0
Not_applicable
0
null
0
0
Slow_progression
2
14
1
0
1
Wheelchair
AAC_device
1
0
Mainstream_with_support
0
1
1
6.35
Respiratory_failure
0
58.7
11.7
14.5
1
76,564
6.4
2,358
53.3
42.3
74.5
56.7
33.9
60.2
0
1
1
0
0
0
1
1,152.2
13
1
0
0
0
0
1
2
1.21
HCG5-0000226
Male
White_non_Hispanic
North_America
Suburban
Middle
Spanish
Uninsured
Gaucher_type1
LSD
355
230,800
AR
5.38
0.05
0.342
5.777
5.436
3
10
20
0
0
0
0
null
Panel
6.62
0
1,500
0
Other
5,542.92
7.44
Delayed
62.2
73.1
61.3
50.9
53.1
0
0
0
5.42
2
0
null
0
116
0
0
1
0
0
0
1
1
1
-2.59
-0.87
0
0
1
0
74.69
56.703
48.931
2.97
4.82
129.7
1.31
0.24
257.5
242.2
99
1,634.3
324.2
1
ERT
Imiglucerase
null
null
null
6.27
19.17
313,009
Fully_covered
0
0
2.61
0
9,446
High_value
0.331
0.886
1
0
Non_responder
0
null
0
0
Slow_progression
0
9
1
0
0
Assisted
Limited_verbal
0
0
Not_enrolled
0
6
0
null
null
0
45.8
17.3
6
1
293,108
3.6
6,837
52.9
36.8
63.6
35.7
27.3
78.6
0
0
1
0
1
1
0
61.3
14
1
0
0
0
0
1
10
2.11
HCG5-0000227
Male
White_non_Hispanic
Latin_America
Urban
Low
English
Medicaid
SMA_type1
NM
83,330
253,300
AR
9.72
0.9
0.01
0.01
0
0
3
15
8
0
1
1
3.5
WES
1.69
1
4,500
1
NBS_followup
45,164.26
4
Profound_delay
35.3
24.1
45.5
14
49.5
0
0
1
3.69
1
1
Severe
1
52.6
1
0
0
1
0
0
0
0
1
-1.65
3.13
0
0
0
0
64.05
53.044
34.477
3.98
1.62
51.8
2.29
0.197
57.6
471.5
14
121.8
5,836.4
1
Supportive_only
null
null
null
null
null
52.53
0
Fully_covered
0
0
4.81
0
1,132
Low_value
0.168
null
0
0
Not_applicable
0
null
0
0
Stable
3
30
0
0
0
Bedbound
Nonverbal
1
1
Special_ed
1
3
1
5.28
Infection
1
59.2
17.6
1.4
1
148,346
6
608
57.2
72.9
100
44.3
25.1
36.5
0
0
1
1
1
0
1
174.7
6
1
0
0
1
0
0
4
2.11
HCG5-0000228
Male
Asian
North_America
Urban
Middle
Spanish
Commercial
CMT_1A_1B
NM
101,081
118,220
AD
4.06
0.02
12
13.541
1.541
2
7
10
1
1
0
0
null
Panel
15.13
0
1,500
1
Geneticist
9,971.89
8.12
Delayed
86.2
62.2
52.9
77.2
81.8
0
0
1
4.81
1
0
null
0
87
0
0
0
0
1
0
0
0
0
-2.65
-4.04
0
0
0
0
422.77
23.408
2.977
9.5
2.98
56.1
4.02
0.247
211.7
633.1
25.9
46.1
481.6
0
Supportive_only
null
null
null
null
null
27.38
0
Partial_coverage
0
0
32.51
0
9,881
Cost_saving
0.368
null
0
0
Not_applicable
0
null
0
0
Slow_progression
3
14
1
0
0
Assisted
Limited_verbal
0
0
Home_school_medical
1
2
0
null
null
0
25.4
19.5
8
0
0
6.8
3,541
68.9
88.8
65.2
71.9
95
53.1
1
0
1
0
1
1
0
50.4
15
1
1
0
0
0
0
10
2.05
HCG5-0000229
Male
White_non_Hispanic
North_America
Suburban
High
English
Commercial
Fabry
LSD
324
301,500
XLR
3.67
0.04
6.105
8.358
2.253
4
9
20
10
1
0
0
null
Single_gene
120
0
800
1
Geneticist
77,640
4.47
Delayed
94.7
86
84.8
48
80.6
0
0
0
0.85
3
0
null
0
84
0
0
0
0
1
1
0
1
1
-4.18
-0.13
0
0
1
0
212.66
146.112
9.156
6.22
2.47
29.4
2.39
0.197
712.7
349.3
45.9
81
4,314.2
1
ASO
null
null
Custom_ASO
null
9.53
8.47
343,482
Partial_coverage
0
0
7.13
0
7,603
High_value
0.143
0.9
0
0
Responder
0
null
0
0
Stable
1
48
0
0
0
Ambulatory
Verbal
0
0
Mainstream_with_support
1
5
0
null
null
0
25.7
8.1
12.4
1
25,447
5.9
1,608
70.4
54.5
59.8
74.9
48.6
37.9
1
0
0
0
0
1
1
231.3
39
1
0
0
0
0
0
18
0.92
HCG5-0000230
Male
White_non_Hispanic
MENA
Urban
Low
English
Uninsured
Pompe_infantile
LSD
365
232,300
AR
6.67
0.85
0.003
0.003
0
0
2
7
7
0
1
1
1
WES
3.22
1
4,500
1
NBS_followup
2,978.83
6.95
Regression
43.9
74.4
105.7
47.7
51.7
0
0
0
2.9
5
1
Mild
1
63.2
1
1
1
0
1
0
1
1
1
-1.66
-2.02
1
0
1
0
26.64
60.564
15.481
0.96
6.79
131
1.33
0.149
476.6
598.2
27.4
586.1
999.7
1
ERT
Avalglucosidase_alfa
null
null
null
0.21
70.41
447,246
Fully_covered
0
0
8.43
1
11,827
Cost_saving
0.425
0.519
0
0
Non_responder
0
null
0
0
Rapid
6
60
0
0
1
Wheelchair
AAC_device
1
0
Home_school_medical
1
0
1
16.95
Other
0
68.5
7.9
14.8
1
17,202
5.7
14,913
50
52.9
57.3
66.4
52.5
44.9
0
0
1
1
0
1
0
122.8
15
1
0
0
0
0
1
1
2.38
HCG5-0000231
Male
Black_non_Hispanic
North_America
Suburban
Low
English
TRICARE
CPS1
UCD
147
237,300
AR
7.3
0.62
0.161
0.637
0.476
2
5
26
1
1
0
0
null
WGS
18.47
0
8,500
1
Other
121,416.55
4.66
Regression
69.6
68.1
52.8
10
63
0
0
0
1.75
0
0
null
0
120.8
0
0
1
1
1
0
0
0
0
-2.22
1.8
1
0
0
1
355.71
23.124
3.906
0.81
2.53
311.5
1.98
0.174
871.5
352.7
36
277
813
1
Supportive_only
null
null
null
null
null
16.95
0
Fully_covered
0
0
36
0
360
Intermediate
0.504
null
0
0
Not_applicable
0
null
0
0
Slow_progression
3
12
2
1
0
Wheelchair
AAC_device
0
0
Mainstream_with_support
1
5
1
9.94
Respiratory_failure
0
63.1
10.9
12
1
40,175
5.4
21,175
51.1
46.5
50
44.5
41.7
57.4
0
1
1
1
0
1
0
40.3
7
0
0
0
0
0
0
1
0.19
HCG5-0000232
Male
White_non_Hispanic
Asia_Pacific
Urban
Middle
English
Commercial
22q11_2_DiGeorge
SYN
567
188,400
AD
5.99
0.08
0.156
5.874
5.718
0
10
12
2
1
0
0
null
WGS
19.6
0
8,500
1
Geneticist
6,153.04
8.11
Delayed
51.7
50
58.8
76.9
103.9
1
1
0
2.85
7
1
Moderate
0
65.1
0
0
0
0
0
0
0
0
0
-2.93
0.91
0
0
0
0
307.49
19.506
18.914
1.01
0.72
20
1.19
0.158
170.1
258.9
22.5
498.7
10,641.4
0
Small_molecule
null
null
null
Supportive_metabolic
6.88
2.98
1,361,851
Prior_auth_required
0
0
14.18
0
3,799
High_value
0.303
0.603
0
0
Responder
0
null
0
0
Stable
4
18
0
0
0
Assisted
Limited_verbal
0
0
Special_ed
1
0
0
null
null
0
69
13.5
5.5
1
10,466
5.2
4,576
33.8
48.1
46.4
59.4
63.7
21.6
1
0
1
1
1
0
0
159
12
1
0
1
0
0
0
1
3.68
HCG5-0000233
Male
Hispanic
North_America
Rural
Low
English
Commercial
SMA_type2
NM
83,418
253,550
AR
5.26
0.25
0.003
0.003
0
0
5
11
1
0
1
1
1
WES
6.94
1
4,500
1
NBS_followup
9,136.74
6.75
Delayed
66.1
64.5
61.4
87.7
119.6
0
0
0
3.37
8
0
null
1
61.1
1
0
0
0
0
0
1
0
0
-2.17
-0.1
0
0
1
0
41.08
15.049
31.22
1.51
2.22
88.8
4.01
0.189
728.3
158.8
38.6
236
1,636.5
1
Supportive_only
null
null
null
null
null
10.6
0
Fully_covered
0
0
5.16
0
55
High_value
0.362
null
0
0
Not_applicable
0
null
0
0
Slow_progression
2
17
4
0
1
Assisted
Limited_verbal
0
0
Home_school_medical
1
0
1
6.37
Cardiac
0
44.1
15.7
14
0
0
5.7
59,016
44.2
51.1
40.1
51.3
43.2
33.1
0
0
0
0
0
0
1
201.8
10
1
0
0
0
1
0
10
0.52
HCG5-0000234
Male
White_non_Hispanic
Latin_America
Suburban
Low
English
Medicaid
Angelman
SYN
72
105,830
AD
4.94
0.08
1.228
11.58
10.352
2
12
17
4
1
0
0
null
WES
4.18
0
4,500
1
Geneticist
35,212.32
5.11
Delayed
79.9
47
75.4
69.4
67.5
0
1
1
1.08
3
0
null
0
53.5
0
0
0
0
0
0
0
0
0
-2.22
1.07
0
0
0
0
217.08
19.734
16.31
2.45
1.42
175.2
5.38
0.171
106.6
418.9
61.8
72.7
391.1
0
Supportive_only
null
null
null
null
null
7.86
0
Fully_covered
0
0
1.45
0
1,759
Low_value
0.46
null
0
0
Not_applicable
0
null
0
0
Stable
0
40
2
1
0
Assisted
Limited_verbal
0
0
Mainstream_with_support
1
1
0
null
null
0
32.3
8.7
12.2
1
23,897
7.2
2,579
70.9
73.6
53
76.6
40.5
49.6
1
0
1
1
0
0
1
34.5
21
0
0
0
0
0
0
0
0
HCG5-0000235
Male
White_non_Hispanic
Asia_Pacific
Rural
Middle
English
Other_public
SCID
IMM
183
300,400
XLR
9.5
0.92
0.003
0.003
0
0
2
14
6
0
1
1
1
WGS
0.92
0
8,500
0
NBS_followup
46,950.23
7.88
Profound_delay
53.5
14.7
10
73
35
0
0
0
1.15
4
1
Moderate
0
114.9
0
0
0
1
0
0
0
0
0
-1.75
-0.01
0
0
0
0
337.13
20.255
2.975
3.12
1.04
20
0.85
0.146
141.2
423.3
30.7
34.3
4,792.4
1
ASO
null
null
Custom_ASO
null
1.28
5.5
186,721
Denied
0
0
11.88
1
14,837
Intermediate
0.412
0.855
0
0
Responder
1
MUD
1
0
Stable
3
23
2
0
0
Bedbound
Nonverbal
1
1
Mainstream
1
0
1
2.37
Cardiac
1
47
15
15.1
1
38,142
5
1,831
36.3
15.1
67.6
57.4
26.1
24.5
0
1
0
1
0
0
1
53.7
5
1
0
0
0
0
0
2
0
HCG5-0000236
Male
White_non_Hispanic
Latin_America
Urban
Low
Other
Medicaid
Leigh_syndrome
MITO
506
256,000
MT
7.27
0.68
2.136
6.93
4.794
2
12
10
2
1
0
0
null
WES
1.64
0
4,500
1
Neurologist
20,846.75
4.63
Regression
58.5
56.5
84.9
78.4
40.1
1
0
1
2.42
3
1
Moderate
1
52.6
1
1
1
1
0
1
1
1
0
-2.1
-0.39
0
0
0
0
36.44
16.651
4.792
4.25
9.61
302.9
2.55
0.154
286
596.2
24.2
97.7
533.4
0
Supportive_only
null
null
null
null
null
14.09
0
Fully_covered
0
0
3.63
0
5,680
Intermediate
0.663
null
0
0
Not_applicable
0
null
0
0
Stable
2
14
1
0
0
Wheelchair
AAC_device
0
0
Mainstream
1
3
0
null
null
1
74.9
12.1
6.4
1
45,981
6.3
3,496
47.2
31
52.6
87.1
30.4
44.9
0
0
0
1
0
0
1
543.9
17
0
1
0
1
1
0
1
6.52
HCG5-0000237
Male
White_non_Hispanic
North_America
Urban
Middle
English
Commercial
Hypophosphatasia
SKEL
436
241,500
AR
6.35
0.25
0.01
1.231
1.221
1
15
21
2
1
0
0
null
WES
19.27
0
4,500
1
Geneticist
60,074.78
5.17
Regression
39.3
86.4
76.2
67.9
122.3
0
0
0
2.31
1
0
null
0
55.1
0
0
1
0
0
1
0
0
1
-1.6
-1.36
0
1
0
0
241.12
18.31
10.898
4.36
6.84
174.4
1.4
0.165
678.6
568.2
32.4
279.8
7,049.8
1
Small_molecule
null
null
null
Supportive_metabolic
4.73
1.26
1,816,331
Partial_coverage
0
0
12.11
1
1,641
Intermediate
0.297
0.767
0
0
Partial
0
null
0
0
Slow_progression
7
11
2
1
0
Wheelchair
AAC_device
1
0
Special_ed
1
6
0
null
null
0
35.3
11.3
13.2
0
0
2.6
8,796
64.9
64.6
48.3
62.5
82.2
25.7
0
0
1
1
1
0
0
67.8
30
0
0
0
0
0
0
2
0
HCG5-0000238
Male
White_non_Hispanic
Europe
Urban
Middle
English
Commercial
Gaucher_type1
LSD
355
230,800
AR
5.1
0.05
3.783
6.336
2.553
0
6
8
4
0
0
0
null
Single_gene
25.74
1
800
0
Neurologist
13,135.86
6.5
Delayed
33.2
70.3
50.8
64.7
73.3
0
1
0
2
7
0
null
0
59.9
0
0
0
1
0
1
1
1
1
-1.86
-0.98
0
0
1
0
92.29
7.589
9.732
4.31
1.39
20
2.31
0.081
126.9
1,026.3
96.8
66.6
1,779
1
ERT
Taliglucerase
null
null
null
6.39
58.17
539,365
Prior_auth_required
0
0
6.4
1
213
High_value
0.517
0.706
0
0
Responder
0
null
0
0
Slow_progression
0
18
1
0
0
Assisted
Limited_verbal
0
0
Special_ed
0
1
0
null
null
0
43.7
12.5
14.6
1
82,402
5.2
15,465
61.5
53.4
36.6
41.6
60.6
25.7
0
0
0
1
1
0
0
185.7
15
0
0
0
0
0
0
4
0
HCG5-0000239
Male
White_non_Hispanic
Asia_Pacific
Urban
Middle
English
Medicaid_CHIP
Fabry
LSD
324
301,500
XLR
5.34
0.04
11.483
15.02
3.537
1
5
22
1
1
0
0
null
Panel
4.07
0
1,500
1
Neurologist
18,774.92
5.83
Delayed
61.9
103.2
63.3
58.7
93.6
0
0
0
1.17
6
1
Moderate
1
72.9
1
0
1
0
0
0
0
0
0
-0.82
-1.14
0
0
1
0
311.75
13.312
9.911
11.19
1.06
341.4
2.11
0.249
563.5
273
96.2
721.4
505.8
1
Gene_therapy
null
Clinical_trial
null
null
17.78
19.55
5,000,000
Fully_covered
0
0
9.66
1
1,271
High_value
0.467
0.591
0
0
Responder
0
null
0
0
Slow_progression
4
21
1
0
1
Assisted
Limited_verbal
0
0
Home_school_medical
1
1
1
18
Respiratory_failure
1
63.3
21.6
3.6
1
54,049
6.7
13,268
56.7
74.9
74.7
34
38.1
64
1
1
1
1
0
0
0
135.7
10
0
0
1
0
0
1
3
5.26
HCG5-0000240
Male
Hispanic
North_America
Urban
Low
Other
Medicaid
WAS_Wiskott
IMM
906
301,000
XLR
6.24
0.55
0.454
5.034
4.58
0
11
24
3
0
0
0
null
Panel
46.3
0
1,500
1
Metabolic_specialist
20,498.97
7.26
Regression
76.9
58.2
44.6
70.1
79.1
0
1
0
1.63
4
1
Mild
0
51.4
0
0
0
1
0
1
0
0
0
0.1
-0.38
1
0
0
0
71.26
5.272
9.6
1.17
3.03
20
1
0.19
322.9
436.1
32
81.4
4,110.6
1
Supportive_only
null
null
null
null
null
1.32
0
Partial_coverage
0
0
14.97
0
726
Cost_saving
0.134
null
1
0
Not_applicable
0
null
0
0
Stable
1
10
0
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
0
0
null
null
0
48.1
17.6
7.5
0
0
7
4,277
49.9
48.5
90.1
59.4
67.8
51.6
0
0
0
1
0
1
0
181.6
15
0
1
0
1
1
0
10
6.81
HCG5-0000241
Male
White_non_Hispanic
North_America
Urban
High
English
Medicaid
Diastrophic
SKEL
628
222,600
AR
5.67
0.1
0.015
0.723
0.708
1
19
15
1
0
0
0
null
Panel
5.37
0
1,500
1
Other
16,571.57
6.23
Delayed
71.2
65.4
66.6
60.5
115.7
0
0
0
1.39
3
0
null
1
61.1
0
0
1
0
0
0
1
0
1
-1.82
-3.43
0
0
0
0
514.01
32.233
2.402
5.85
1.01
20
4.6
0.129
366.6
258.8
63.8
39.8
3,044.8
0
Supportive_only
null
null
null
null
null
19.3
0
Partial_coverage
0
0
1.41
0
1,434
Intermediate
0.436
null
0
0
Not_applicable
0
null
0
0
Slow_progression
1
33
3
0
1
Assisted
Limited_verbal
0
0
Special_ed
1
2
0
null
null
0
41.1
19
2.8
1
50,209
4.5
18,456
70.3
55.9
44.6
10.9
76.1
46
0
0
1
1
1
0
0
163.7
15
1
0
0
0
0
0
5
0
HCG5-0000242
Female
White_non_Hispanic
North_America
Urban
Low
Other
Commercial
MPS_III_Sanfilippo
LSD
581
252,900
AR
8.98
0.7
2.104
5.795
3.691
0
7
16
3
0
0
0
null
Metabolic
7.83
0
900
0
Geneticist
4,718.47
3.98
Profound_delay
46
25.5
38.4
52.1
42.5
0
0
1
0.46
0
0
null
1
45.6
0
0
0
1
1
0
1
1
1
-2.55
1.25
0
0
1
1
142.09
23.856
25.156
5.83
2.67
95.3
2.03
0.209
87.7
581.2
44.1
244.9
216.3
0
Supportive_only
null
null
null
null
null
16.24
0
Fully_covered
0
0
7.51
0
47
High_value
0.404
null
0
0
Not_applicable
0
null
0
0
Moderate
4
11
2
1
0
Bedbound
Nonverbal
1
0
Special_ed
1
2
0
null
null
0
59.8
15.9
7.2
0
0
6.1
3,572
35.6
34.8
41.9
42.1
26.8
45.1
0
0
0
1
0
0
0
2.7
31
0
1
0
0
0
0
1
3.64
HCG5-0000243
Male
White_non_Hispanic
MENA
Urban
Middle
English
Commercial
Alpers
MITO
726
203,700
AR
6.97
0.75
2.955
9.882
6.928
5
6
10
0
1
0
0
null
Panel
12.42
0
1,500
1
Geneticist
26,312.51
6.24
Regression
54.6
50.2
56
66.5
35.2
0
0
1
1.7
1
0
null
0
83.7
0
0
0
0
0
0
1
1
0
-3.52
2.71
0
0
0
0
98.01
19.879
21.424
1.63
3.54
157.3
1.68
0.135
154.2
229.6
109.8
565
1,696.9
0
Small_molecule
null
null
null
Supportive_metabolic
10.4
49.99
165,912
Fully_covered
0
0
6.58
1
2,330
Low_value
0.331
0.804
0
0
Responder
0
null
0
0
Stable
10
19
1
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
0
1
18
Infection
0
40.9
23.7
10.2
1
36,645
6.7
110,089
58.2
71.9
40.6
42.9
41.1
55.6
0
1
0
1
0
1
0
30.5
7
1
0
0
0
0
0
4
0
HCG5-0000244
Male
White_non_Hispanic
Asia_Pacific
Urban
Middle
English
Medicaid
SMA_type3
NM
83,419
253,400
AR
4.76
0.04
6.128
14.828
8.7
4
6
6
3
1
1
0
null
WES
54.28
0
4,500
1
Metabolic_specialist
24,257.8
7.47
Delayed
74.6
47.9
45.1
64.7
113.3
0
1
0
6.93
5
0
null
1
40.2
0
0
0
0
0
0
0
0
0
-1.02
-1.09
0
0
0
0
88.01
49.285
19.495
6.87
4.37
42
2.39
0.135
218.7
576.4
51.1
1,263.7
2,437.8
1
Small_molecule
null
null
null
Supportive_metabolic
15.38
66.45
930,498
Denied
0
0
8.66
0
631
Intermediate
0.739
0.742
0
0
Responder
0
null
0
0
Stable
4
23
0
0
0
Assisted
Limited_verbal
0
0
Special_ed
1
6
0
null
null
0
52.5
17.8
3
1
21,697
4.8
17,574
53
69
78
43.4
53.3
41.2
1
1
1
1
1
0
1
39.2
5
1
0
0
0
0
0
0
0
HCG5-0000245
Male
White_non_Hispanic
Europe
Urban
Middle
English
Commercial
EB_simplex
DERM
304
131,800
AD
3.64
0.04
0.016
0.281
0.265
1
15
8
7
0
0
0
null
null
4.67
1
0
0
Metabolic_specialist
70,994.98
8.75
Delayed
58.4
48.1
64.4
97.2
98.8
0
0
0
5.58
7
1
Moderate
0
67
0
0
1
0
0
1
0
0
0
-2.88
1.48
0
0
0
0
434.42
10.204
17.935
6.04
4.51
20
1.32
0.192
366.9
252.6
38.8
41.6
2,299.7
0
Supportive_only
null
null
null
null
null
72
0
Fully_covered
0
0
10.53
0
6,131
High_value
0.651
null
0
0
Not_applicable
0
null
0
0
Slow_progression
1
18
0
0
0
Ambulatory
Verbal
0
0
Home_school_medical
1
2
0
null
null
0
11.1
3.5
15.5
1
40,820
3.8
800
70.5
32.3
84.5
64.7
39
35.9
0
0
0
1
0
0
1
75.3
16
0
0
1
0
0
0
1
0.47
HCG5-0000246
Male
Black_non_Hispanic
Asia_Pacific
Urban
Low
English
Medicaid
SMA_type3
NM
83,419
253,400
AR
4.65
0.04
0.028
0.028
0
0
3
12
10
0
1
1
10.2
WES
1.48
1
4,500
1
NBS_followup
8,456.16
6.38
Delayed
83.8
48.9
91.5
65.4
83.1
0
0
0
1.87
8
0
null
0
77.3
0
0
0
0
1
0
0
0
0
1.02
-0.61
0
0
0
0
87.96
11.708
9.434
4.33
1.64
25.4
1.99
0.293
92.9
535.5
137
1,171.5
1,503.1
1
Gene_therapy
null
Onasemnogene_abeparvovec
null
null
0.27
7.35
2,392,660
Prior_auth_required
0
0
7.67
0
103
Cost_saving
0.283
0.63
0
0
Responder
0
null
0
0
Stable
5
21
1
0
0
Assisted
Limited_verbal
0
1
Mainstream_with_support
1
1
0
null
null
0
21.2
16.8
15.8
1
51,910
4.2
3,688
69.5
64.3
65.6
39
42.5
65.5
0
0
1
1
0
0
0
20.7
20
1
0
0
0
0
0
1
0.26
HCG5-0000247
Male
White_non_Hispanic
Europe
Suburban
Low
Mandarin
Commercial
CPS1
UCD
147
237,300
AR
9.37
0.62
0.01
1.735
1.725
4
15
10
8
1
0
0
null
Panel
23.92
0
1,500
0
Other
15,131.49
5.25
Profound_delay
54.3
43.5
23.2
39.5
79.4
0
0
0
3.78
2
1
Severe
1
67.6
1
0
0
1
1
0
0
0
0
1.54
-1.36
0
0
1
0
523.45
5.853
7.054
0.65
3.54
21.5
0.74
0.185
51.9
667.3
23.4
300
3,808.5
1
Small_molecule
null
null
null
Supportive_metabolic
2.31
18.08
251,297
Partial_coverage
0
0
3.73
0
11,134
Cost_saving
0.534
0.675
0
0
Partial
0
null
0
0
Slow_progression
1
24
2
1
0
Bedbound
Nonverbal
1
1
Mainstream_with_support
1
5
1
12.32
Neurodegeneration
0
46.2
15.8
10.7
1
19,163
3.9
2,819
48.5
58.4
30.7
17.7
30.7
42.6
0
0
0
1
0
1
0
48.5
15
1
1
0
0
1
0
2
5.92
HCG5-0000248
Female
Asian
Europe
Urban
Middle
Other
Medicaid
HCU_homocystinuria
OA
394
236,200
AR
5.29
0.08
0.003
0.003
0
0
2
5
2
0
1
1
1
Metabolic
1.95
0
900
0
NBS_followup
79,470.57
6.98
Delayed
59.2
53.2
10
47.1
80.6
0
0
0
3.63
1
0
null
1
48.6
0
0
0
0
1
0
0
0
0
-2.06
-1.01
1
1
1
0
224.4
55.741
4.875
9.69
10.51
118.8
0.54
0.121
20
167.8
55.9
123.6
3,193.7
0
Supportive_only
null
null
null
null
null
5.88
0
Partial_coverage
0
0
2.42
0
647
Intermediate
0.554
null
0
0
Not_applicable
0
null
0
0
Rapid
8
12
3
0
0
Assisted
Limited_verbal
0
0
Home_school_medical
1
4
0
null
null
0
64.9
16.3
7
0
0
6.6
49,978
75.6
49.3
68.8
68.1
48.5
70.7
0
0
1
1
1
0
1
13.7
9
1
1
0
0
0
0
3
3.89
HCG5-0000249
Female
Asian
Europe
Urban
Low
English
Medicaid
ASL
UCD
23
207,900
AR
8.6
0.42
0.701
2.135
1.433
1
25
5
6
0
0
0
null
Panel
20.19
1
1,500
1
Geneticist
35,030
4.89
Profound_delay
52
37.2
36.7
39
84.7
0
1
0
2.18
1
0
null
0
97.3
0
0
0
0
0
0
1
0
0
-3.8
-0.26
1
1
1
0
45.35
38.282
48.844
5.37
0.5
20.7
1.24
0.144
598.8
186.1
116.3
517.4
1,865.2
1
SRT
null
null
null
null
2.36
29.26
1,481,344
Partial_coverage
0
0
1.6
1
154
High_value
0.446
0.403
0
0
Non_responder
0
null
0
0
Moderate
4
52
4
1
0
Bedbound
Nonverbal
1
0
Home_school_medical
1
0
1
7.79
Cardiac
1
46.6
4.6
10.9
1
7,933
5.9
2,363
60.9
54
59.3
43.6
100
43
1
0
1
1
0
1
0
5.9
17
1
0
0
0
1
0
7
1.64
HCG5-0000250
Male
White_non_Hispanic
Europe
Urban
Low
Other
Medicaid
Congenital_myopathy
NM
97,245
160,150
AR
7.45
0.18
1.131
5.202
4.071
0
16
5
1
0
0
0
null
Single_gene
23.61
0
800
1
Cardiologist
44,110
9.07
Regression
20.7
61.6
98.5
92.6
62.2
1
0
0
6.35
6
1
Mild
1
49.7
0
0
0
0
0
0
1
0
0
-1.02
-1.55
0
0
1
0
186.04
73.452
11.96
6.19
4.45
20
1.62
0.232
759.7
410.5
71.3
1,086.7
1,427.4
0
Supportive_only
null
null
null
null
null
0.93
0
Partial_coverage
0
0
7.45
0
8,471
Intermediate
0.222
null
0
0
Not_applicable
0
null
0
0
Rapid
2
61
1
0
1
Wheelchair
AAC_device
1
0
Special_ed
1
6
0
null
null
0
47.2
4.5
18.2
1
100,141
5.3
632
46.1
69.5
63.4
60.2
26.5
63
0
1
0
1
0
1
1
1,047.4
15
1
1
0
0
1
0
6
3.46
HCG5-0000251
Male
White_non_Hispanic
North_America
Suburban
Middle
English
Commercial
EB_simplex
DERM
304
131,800
AD
5.59
0.04
0.146
0.311
0.165
1
24
9
0
1
0
0
null
Panel
6.33
0
1,500
1
Other
40,460.86
6.61
Delayed
66.9
35.9
78.7
46.6
87.4
0
1
1
7.64
0
0
null
1
68.4
1
0
0
0
0
0
0
0
0
0.72
0.57
0
0
0
0
189.97
92.233
2.733
0.3
1.15
20
0.78
0.194
21.9
389.3
26.2
38.6
2,096.7
0
Small_molecule
null
null
null
Supportive_metabolic
2.21
2.45
93,566
Partial_coverage
0
0
10.74
0
17,860
High_value
0.249
0.792
0
0
Responder
0
null
0
0
Moderate
0
38
0
0
1
Assisted
Limited_verbal
0
0
Special_ed
1
3
0
null
null
0
50
12.1
13.5
0
0
4.7
16,605
59.8
47.1
41
61.1
18.7
53.6
0
0
1
0
1
0
1
34
29
1
0
0
1
0
0
2
2.02
HCG5-0000252
Male
White_non_Hispanic
Latin_America
Urban
High
English
Medicaid_CHIP
Leigh_syndrome
MITO
506
256,000
MT
8.98
0.68
0.01
1.188
1.178
1
13
20
0
1
0
0
null
Panel
59.61
0
1,500
1
Metabolic_specialist
40,622.79
4.34
Profound_delay
39.2
45.8
24.8
49.9
59.5
0
0
0
1.51
1
0
null
0
97.1
0
0
1
1
0
0
0
1
0
-3.37
-1.23
0
0
0
0
43.9
15.151
11.866
2.93
11.75
20
1.65
0.243
268
315.4
25.2
152.3
988.6
0
Supportive_only
null
null
null
null
null
6.19
0
Partial_coverage
0
0
4.91
0
4,657
Intermediate
0.515
null
0
0
Not_applicable
0
null
0
0
Stable
1
29
2
0
0
Bedbound
Nonverbal
1
0
Mainstream_with_support
1
5
1
10.22
Other
1
43.4
3.2
2.2
1
9,333
7.1
339
52.1
45.8
32.9
60.7
64.1
61.2
0
0
0
1
0
1
1
222
12
0
0
0
0
0
0
3
1.43
HCG5-0000253
Male
Black_non_Hispanic
Asia_Pacific
Suburban
Low
English
Commercial
MPS_VI_Maroteaux
LSD
583
253,200
AR
8.32
0.32
0.472
3.753
3.281
1
10
23
4
1
0
0
null
WGS
9.86
0
8,500
1
Geneticist
138,544.24
6.17
Profound_delay
68.6
64.5
40.7
37.3
44.6
0
0
0
3.42
4
0
null
1
43.1
0
1
1
0
1
0
1
1
1
0.48
-2.12
0
0
1
1
182.78
11.704
1.867
1.42
6.93
31
1.62
0.193
155.6
287.7
16.7
134.4
650.3
1
Small_molecule
null
null
null
Supportive_metabolic
4.44
9.33
97,505
Prior_auth_required
0
0
14.12
0
3,073
Low_value
0.511
0.624
0
0
Partial
0
null
0
0
Stable
0
11
3
0
0
Bedbound
Nonverbal
1
1
Special_ed
1
4
0
null
null
0
26.1
17.7
0
0
0
5.5
4,235
66.2
31.4
24.5
55.8
48.2
56.3
0
0
0
1
0
0
0
146.7
9
0
0
0
0
0
0
5
0.2
HCG5-0000254
Female
White_non_Hispanic
North_America
Rural
High
English
Medicaid_CHIP
MPS_IV_Morquio
LSD
582
253,000
AR
6.96
0.3
2.533
11.874
9.34
4
8
19
2
1
0
0
null
Panel
8.64
0
1,500
1
Metabolic_specialist
29,213.51
6.25
Regression
51.2
74.6
65.5
12.7
55.1
0
0
0
2.77
6
0
null
0
67
0
0
0
0
0
0
0
0
1
-4.02
-0.43
0
0
1
1
311.74
4.411
15.229
12.61
6.73
20
2.14
0.225
1,054.1
238
126.2
487.2
587.7
1
Small_molecule
null
null
null
Supportive_metabolic
12.76
11.94
186,849
Prior_auth_required
0
0
6.03
0
1,053
Cost_saving
0.369
0.753
0
0
Partial
0
null
0
0
Moderate
0
38
0
1
0
Wheelchair
AAC_device
0
0
Home_school_medical
1
5
0
null
null
0
57.2
14
6.2
0
0
6.2
13,550
26.2
55.7
80
66.2
40.8
62
0
0
1
1
0
0
0
34.6
5
1
0
1
0
0
0
4
2.8
HCG5-0000255
Male
Hispanic
Europe
Urban
Middle
Mandarin
Medicaid
OI_type1_to_4
SKEL
666
166,200
AD
3.5
0.06
0.01
2.857
2.847
0
22
5
4
0
0
0
null
WGS
42.42
0
8,500
0
Geneticist
10,826.92
3.97
Delayed
92.9
88.1
38.6
87.9
71.1
0
0
0
4.34
0
1
Moderate
0
109
0
0
0
0
0
0
0
0
1
-3.55
-1.51
0
0
0
1
560.12
8.263
13.855
1.85
1.54
20
3.22
0.37
190.1
430.8
20.2
1,219.3
1,636
1
Chaperone
null
null
null
null
3.45
40.52
86,037
Fully_covered
0
0
6.19
1
2,955
Intermediate
0.657
0.706
0
0
Responder
0
null
0
0
Moderate
4
12
2
1
0
Ambulatory
Verbal
0
0
Special_ed
1
2
0
null
null
1
48.5
23.7
9.7
1
29,320
4.7
4,116
80.4
36.6
87.5
96.1
75.3
71.1
0
0
1
0
0
0
0
292.4
12
1
0
0
0
0
0
3
0.7
HCG5-0000256
Male
Hispanic
North_America
Rural
High
English
Medicaid
SCID
IMM
183
300,400
XLR
8.05
0.92
0.019
0.019
0
0
2
7
1
0
1
1
6.8
Single_gene
0.59
0
800
0
NBS_followup
47,806.54
7.69
Profound_delay
40.6
49.1
25.7
37.1
59.2
0
0
0
0.53
1
0
null
1
37.1
0
0
0
1
0
0
0
0
0
-1.43
-0.92
0
0
0
0
536.11
16.57
7.48
14.63
4.21
144.3
6.22
0.096
470.9
225.4
73.7
265.3
766.8
1
Chaperone
null
null
null
null
0.14
4.88
182,949
Fully_covered
0
0
1.83
0
5,793
High_value
0.689
0.687
0
0
Partial
1
MSD
1
1
Moderate
10
36
0
0
0
Bedbound
Nonverbal
1
0
Mainstream_with_support
1
1
1
7.12
Cardiac
1
53.2
15.7
2.5
0
0
4.4
25,209
21.8
55.1
25.1
58.8
18
37.4
1
0
1
0
0
0
0
20.5
23
0
0
0
0
0
0
1
1.13
HCG5-0000257
Male
Hispanic
MENA
Suburban
Middle
English
Medicaid
Fabry
LSD
324
301,500
XLR
4.75
0.04
6.412
18
14.692
1
14
25
3
1
0
0
null
MLPA
15.18
1
1,000
1
Neurologist
16,156.92
6.63
Delayed
28
58.7
75.1
75.2
62.4
1
0
0
3.18
8
1
Mild
1
66
0
0
0
0
1
1
1
1
1
-0.58
-0.49
0
1
0
0
1,976.4
3.473
5.23
9.6
4.65
20
2.88
0.433
146.9
438.4
16.5
177.4
1,542.6
1
ASO
null
null
Custom_ASO
null
18
2.41
73,521
Prior_auth_required
0
0
4.49
0
1,262
Low_value
0.687
0.689
0
0
Responder
0
null
0
0
Stable
0
63
0
0
1
Assisted
Limited_verbal
1
0
Mainstream
1
5
0
null
null
0
30.2
16.6
9.2
0
0
7
9,005
66
82.5
47.3
70.6
60.1
72.6
0
0
1
1
0
1
0
50.3
10
1
0
0
0
0
0
1
0.86
HCG5-0000258
Male
Black_non_Hispanic
Latin_America
Urban
Middle
English
Uninsured
Gaucher_type2_3
LSD
77,259
230,900
AR
7.9
0.72
0.01
5.271
5.261
2
14
3
1
1
0
0
null
Single_gene
5.35
0
800
1
Metabolic_specialist
24,368.75
6.65
Regression
44.6
49.5
78.2
67.5
63.8
1
0
1
2.01
2
0
null
1
55.7
1
0
1
0
0
0
0
0
1
-1.88
-2.54
0
0
0
0
181.38
8.418
20.21
5.35
0.39
20
1.23
0.24
107.3
273.9
267.7
399.4
6,836.9
1
HSCT
null
null
null
null
7.66
6.51
98,701
Fully_covered
0
0
15.31
1
812
High_value
0.687
0.685
0
0
Responder
0
null
0
0
Stable
1
25
2
0
0
Wheelchair
AAC_device
1
0
Special_ed
1
5
0
null
null
0
69.7
16.8
2.6
0
0
5.9
2,440
58
24.7
41.1
54.7
41.1
46.6
0
1
0
1
1
0
0
106.9
4
1
0
0
0
1
1
2
3.36
HCG5-0000259
Male
Other_Multi
Latin_America
Urban
Middle
English
Medicaid
SMA_type2
NM
83,418
253,550
AR
7.43
0.25
0.003
0.003
0
0
4
10
2
0
1
1
1
MLPA
12
0
1,000
0
NBS_followup
37,540.02
9.33
Regression
55.3
85.4
38.8
56.2
65.8
0
0
0
3.76
1
1
Moderate
1
44.8
1
1
0
1
0
1
0
0
0
-1.26
1.93
1
0
0
0
315.39
20.603
11.305
11.12
3.79
329.4
3.32
0.472
614.4
295.5
17.3
189.1
1,469.9
1
Supportive_only
null
null
null
null
null
5.12
0
Prior_auth_required
0
0
23.52
0
1,614
Cost_saving
0.417
null
0
0
Not_applicable
0
null
0
0
Rapid
1
78
1
1
0
Wheelchair
AAC_device
0
0
Special_ed
1
0
0
null
null
0
41.9
13.7
10.9
1
33,648
6
7,560
47.7
70.5
74.4
15.7
47.2
22
0
0
0
1
0
1
1
56.6
20
1
0
0
0
0
0
6
0.16
HCG5-0000260
Female
White_non_Hispanic
North_America
Suburban
Middle
English
Other_public
Pompe_infantile
LSD
365
232,300
AR
8.03
0.85
0.011
0.011
0
0
4
8
5
0
1
1
4
Single_gene
11.09
0
800
1
NBS_followup
12,845.91
7.45
Profound_delay
50.5
55.4
76.7
54
57.9
0
0
0
2.13
6
1
Mild
1
64.4
0
0
1
1
0
0
0
1
1
-0.47
0.9
0
0
1
0
98.87
49.605
2.122
2.11
5.77
120.1
5.16
0.112
892.5
670.4
46.1
22.5
2,075.9
1
SRT
null
null
null
null
0.33
18.33
505,553
Fully_covered
0
0
5.63
0
3,546
Low_value
0.18
0.731
0
0
Responder
0
null
0
0
Stable
2
21
2
0
0
Bedbound
Nonverbal
0
0
Special_ed
0
0
1
4.09
Cardiac
0
68.5
14.1
12.1
1
147,468
6.2
34,837
60.3
41.6
57.6
49.5
46
62.4
0
0
1
0
0
0
0
45.9
10
1
0
0
1
0
0
2
1.55
HCG5-0000261
Male
White_non_Hispanic
North_America
Rural
High
Spanish
Medicaid
WAS_Wiskott
IMM
906
301,000
XLR
9.91
0.55
0.701
5.26
4.559
0
5
13
6
0
0
0
null
Karyotype
9.87
0
1,200
1
Geneticist
16,996.02
7.74
Profound_delay
38.6
36.5
14.8
19.1
47.4
0
0
0
4.56
2
0
null
0
118.1
0
0
1
1
0
0
0
0
0
-0.34
-1.41
0
0
0
0
1,193
11.642
35.999
2.43
0.93
153.8
1.14
0.193
53.4
588.3
104.4
432.1
1,438.4
1
Small_molecule
null
null
null
Supportive_metabolic
8.11
53.38
375,977
Fully_covered
0
0
14.59
0
9,861
Intermediate
0.362
0.699
0
0
Partial
0
null
0
0
Rapid
1
25
0
1
0
Bedbound
Nonverbal
1
0
Mainstream
1
2
1
11.7
Metabolic_crisis
1
20.4
13.6
20
1
27,084
7
7,777
23.8
23.9
81.5
75
92.7
66.2
1
0
1
1
0
0
0
6.4
21
1
0
0
0
0
0
2
0.94
HCG5-0000262
Male
White_non_Hispanic
North_America
Urban
Low
English
Medicaid
MMA
OA
27
251,000
AR
7.38
0.45
0.015
0.015
0
0
2
15
0
0
1
1
5.5
WGS
1.85
0
8,500
1
NBS_followup
41,285.38
5.42
Regression
42.9
65
10
65.5
44.8
1
1
0
1.12
3
0
null
1
68.8
1
1
0
1
0
0
0
0
0
-2.55
-0.43
1
1
0
0
74.37
24.908
5.229
9.37
5.71
74.2
1.17
0.176
963.8
221.7
27.3
723.6
6,677.6
0
Supportive_only
null
null
null
null
null
48.35
0
Fully_covered
0
0
23.88
0
6,825
High_value
0.399
null
0
0
Not_applicable
0
null
0
0
Slow_progression
8
40
2
0
1
Wheelchair
AAC_device
0
0
Special_ed
1
2
1
13.94
Infection
1
41.9
0
10.2
1
282,588
7.2
10,311
37.2
40.1
51.7
63.4
35.5
58.9
0
0
0
1
1
0
1
127.3
8
0
0
0
1
0
0
2
2.52
HCG5-0000263
Male
Asian
North_America
Urban
Low
English
Medicaid
Pompe_infantile
LSD
365
232,300
AR
8.99
0.85
0.421
1.863
1.442
2
10
22
2
0
1
0
null
WES
11.08
0
4,500
0
Cardiologist
16,419.41
6.33
Profound_delay
35.7
45.2
52.7
38
41.7
1
0
0
2.21
2
1
Moderate
1
57.8
1
0
0
0
0
0
1
1
1
-2.84
0.62
0
0
1
0
1,140.52
118.793
3.72
2.11
3.63
229.5
0.95
0.235
76
235.9
66.3
797.2
9,488.1
1
Small_molecule
null
null
null
Supportive_metabolic
2.33
33.06
5,000,000
Fully_covered
0
0
2.88
0
8,945
Low_value
0.307
0.734
0
0
Responder
0
null
0
0
Moderate
5
46
0
0
1
Bedbound
Nonverbal
1
1
Home_school_medical
1
5
1
18
Cardiac
1
70.5
20.4
9.5
1
185,634
4.4
9,695
28.4
40.2
28.6
40.5
24
46.8
1
0
1
1
0
0
0
149.4
25
1
0
0
0
0
0
2
0.56
HCG5-0000264
Female
Black_non_Hispanic
North_America
Suburban
Low
English
Medicaid
Rett
SYN
778
312,750
XLD
6.7
0.12
1.244
8.668
7.424
3
16
8
2
1
0
0
null
Single_gene
7.78
1
800
1
Geneticist
64,604.98
5.76
Regression
36.2
62.8
64.5
18.5
24.4
1
0
1
2.38
2
0
null
1
90.7
0
0
0
0
0
0
0
0
1
-0.54
-0.07
0
0
0
0
1,003.19
4.369
41.38
1.55
11.51
126.1
1.59
0.199
20
538.6
36.7
68.6
1,130.6
0
Supportive_only
null
null
null
null
null
5.33
0
Prior_auth_required
0
0
8.9
0
161
Intermediate
0.351
null
0
0
Not_applicable
0
null
0
0
Stable
4
17
2
1
0
Wheelchair
AAC_device
0
1
Special_ed
1
3
0
null
null
0
45.4
19.8
17.3
1
14,722
5.5
2,958
41.3
38.6
44.6
62.6
60.1
35.3
0
0
1
1
1
0
1
32.2
12
1
0
0
1
1
0
0
4.36
HCG5-0000265
Male
Hispanic
North_America
Urban
High
English
Commercial
Pompe_late_onset
LSD
365
232,300
AR
4.3
0.1
0.012
0.012
0
0
2
27
2
1
1
1
4.2
WES
1.24
0
4,500
1
NBS_followup
11,075.14
8.32
Delayed
36.1
68.7
85.4
87.8
72.4
0
0
0
3.94
7
1
Mild
0
51.2
0
0
1
0
0
0
1
1
0
-1.25
2.61
0
1
0
0
82.69
58.985
31.615
3.47
2.29
22.6
2.78
0.191
247.9
178.2
58.7
477.2
3,743.6
1
Small_molecule
null
null
null
Supportive_metabolic
0.63
8.35
83,936
Fully_covered
0
0
7.94
1
2,649
Intermediate
0.212
0.696
0
0
Partial
0
null
0
0
Rapid
5
35
4
0
0
Assisted
Limited_verbal
1
0
Special_ed
1
0
0
null
null
0
11.1
17.5
13.3
1
79,975
4.5
1,156
77.8
76.4
46.1
38.3
76.7
40
0
0
1
1
0
0
0
152.6
13
1
0
0
0
1
1
3
2.48
HCG5-0000266
Male
White_non_Hispanic
Sub_Saharan_Africa
Suburban
Middle
English
Commercial
MMA
OA
27
251,000
AR
7.35
0.45
0.016
0.016
0
0
6
12
1
0
1
1
5.9
WES
1.06
0
4,500
1
NBS_followup
11,041.63
7.44
Regression
50.3
46.6
63.2
73.8
35.7
0
1
0
2.9
4
0
null
0
63.5
0
0
0
1
1
0
1
0
1
-1.09
-0.78
1
1
1
0
510.98
31.271
8.344
2.21
3.9
20
5.42
0.226
449.7
755.2
95.3
1,320.9
14,634.7
0
Supportive_only
null
null
null
null
null
15.91
0
Denied
0
0
17.59
0
1,391
Low_value
0.549
null
0
0
Not_applicable
0
null
0
0
Slow_progression
2
13
5
0
0
Wheelchair
AAC_device
1
0
Not_enrolled
0
3
1
8.97
Other
1
34.4
13.7
11.1
0
0
6
8,964
73.7
39
77.3
67.6
16.9
53.5
0
0
1
1
0
0
1
71.9
15
1
0
0
0
0
0
1
0.56
HCG5-0000267
Male
Other_Multi
North_America
Urban
Middle
Spanish
Medicaid
Pompe_late_onset
LSD
365
232,300
AR
5.53
0.1
5.956
18
15
0
6
20
1
0
1
0
null
WES
2.41
0
4,500
1
Neurologist
149,559.6
2.22
Delayed
50.6
84.6
65.3
92.2
70.1
1
0
0
5.09
8
0
null
0
77.8
0
0
0
0
1
0
0
1
1
-2.59
1.5
0
0
0
0
286.21
69.399
3.946
19.93
4.51
20
3.8
0.158
39.7
390.6
33.1
3,958.7
566.4
1
Chaperone
null
null
null
null
18
4.27
360,399
Fully_covered
0
0
3.15
0
8,374
Low_value
0.713
0.88
0
0
Responder
0
null
0
0
Slow_progression
7
15
2
1
0
Assisted
Limited_verbal
1
0
Special_ed
1
1
0
null
null
0
50.4
11.8
8.9
0
0
5.3
26,062
54.4
56.3
97.5
48.1
59.8
45
1
1
1
0
0
1
0
184.1
7
1
1
0
0
0
0
1
0.73
HCG5-0000268
Male
White_non_Hispanic
North_America
Suburban
High
Other
Commercial
Fabry
LSD
324
301,500
XLR
4.9
0.04
6.73
16.663
9.933
6
11
6
0
1
0
0
null
WES
14.34
0
4,500
1
Neurologist
6,787.22
7.69
Delayed
87.6
32.6
60.3
109.4
55.9
0
0
0
4.17
6
1
Severe
0
119.2
0
0
0
1
0
0
1
1
1
-1.03
-2.54
1
0
0
0
120.06
52.995
5.372
8.33
0.27
30.1
2.8
0.134
22.7
273.4
127.5
414.4
4,819
1
ERT
Agalsidase_alfa
null
null
null
18
4.73
148,167
Partial_coverage
0
0
8.88
0
8,967
Intermediate
0.849
0.798
0
0
Partial
0
null
0
0
Stable
12
28
2
1
0
Assisted
Limited_verbal
1
0
Home_school_medical
1
4
0
null
null
0
66
5.7
18.7
1
10,614
5.4
11,066
61
94.3
71.5
62.6
27.1
32.2
1
0
1
1
0
1
0
129.3
6
1
0
0
0
0
0
6
0
HCG5-0000269
Female
White_non_Hispanic
Asia_Pacific
Rural
High
English
Commercial
Gaucher_type1
LSD
355
230,800
AR
6.99
0.05
4.51
12.077
7.567
2
17
16
2
0
0
0
null
Metabolic
10.57
0
900
1
Metabolic_specialist
26,264.02
5.99
Regression
15.3
65.8
46.5
69.3
14.4
0
0
0
5.07
8
1
Mild
0
108.7
0
0
1
1
1
0
1
1
0
-3.11
-2.29
0
0
1
0
158.25
12.221
8.217
2.83
2.41
20
2.29
0.198
135.1
367
57.2
722.2
317.1
1
ASO
null
null
Custom_ASO
null
12.25
15.06
556,641
Partial_coverage
0
0
5.3
0
2,487
Intermediate
0.465
0.789
0
0
Responder
0
null
0
0
Stable
3
10
3
0
0
Wheelchair
AAC_device
0
0
Mainstream_with_support
1
4
0
null
null
0
43.6
5.6
7.1
1
35,702
5.5
1,589
86.8
42.2
44.8
34.2
17.7
46.4
1
0
0
1
1
0
0
39.4
15
1
0
1
1
0
0
6
5.13
HCG5-0000270
Male
Other_Multi
Europe
Suburban
Low
Other
Uninsured
Gaucher_type1
LSD
355
230,800
AR
4.85
0.05
0.01
3.316
3.306
0
15
3
3
1
0
0
null
null
15.06
0
0
1
Metabolic_specialist
142,391.48
7.45
Delayed
73.7
60.9
56.4
78.3
121.4
0
0
0
5.7
8
0
null
0
50.2
0
0
1
1
1
0
1
1
1
-1.5
2.3
0
0
1
0
236.39
22.234
36.4
2.01
3.59
20
2.81
0.134
115.1
720.9
174.8
82.1
1,862.4
1
ERT
Taliglucerase
null
null
null
4.27
2.22
172,879
Fully_covered
0
0
9.8
1
1,358
Cost_saving
0.389
0.671
0
1
Responder
0
null
0
0
Stable
1
17
2
1
0
Assisted
Limited_verbal
0
0
Mainstream_with_support
0
4
0
null
null
0
61.2
8.9
2.8
1
300,000
5.5
9,319
50.4
42.3
67.2
63.6
48
35.6
1
0
0
1
0
1
1
548.2
32
1
0
0
0
0
0
1
0
HCG5-0000271
Female
White_non_Hispanic
Asia_Pacific
Suburban
Middle
English
Uninsured
MPS_I_Hurler
LSD
579
607,014
AR
8.4
0.8
0.008
0.008
0
0
4
14
5
0
1
1
3.1
WES
1.02
0
4,500
0
NBS_followup
26,219.74
7.83
Profound_delay
83.6
11.7
32.8
66.2
46.2
1
0
0
1.22
8
0
null
1
45.4
0
1
0
0
0
0
0
0
1
-1.67
-1.09
0
0
1
1
259.99
5.963
39.075
5.88
0.4
29.6
2.92
0.157
1,265.9
125.8
25
71.1
1,571.7
1
ERT
Laronidase
null
null
null
2.41
33.18
261,644
Prior_auth_required
0
0
20.07
1
11,072
Low_value
0.413
0.737
0
0
Non_responder
0
null
0
0
Moderate
3
18
0
1
0
Bedbound
Nonverbal
1
1
Home_school_medical
1
2
1
11.94
Cardiac
0
54.2
14.7
10.1
0
0
8.8
15,676
36.8
33.8
24.2
3.4
29.4
41
1
1
0
1
0
1
1
20.5
24
1
0
0
0
0
0
0
0
HCG5-0000272
Female
White_non_Hispanic
Europe
Suburban
High
Spanish
Commercial
Gaucher_type1
LSD
355
230,800
AR
5.98
0.05
7.114
18
13.712
2
4
15
5
0
0
0
null
Single_gene
7.69
0
800
1
Geneticist
90,408.5
7.7
Delayed
57.8
44.4
20.1
44.3
97.2
0
0
0
2.44
1
0
null
0
58.9
0
0
1
0
0
0
0
0
1
-1.66
-2.27
1
1
1
0
807.7
13.865
14.145
11.59
6.09
259.1
4.86
0.093
248.3
609.8
28.5
724.9
328
1
Chaperone
null
null
null
null
18
6.41
1,816,072
Fully_covered
0
0
25.27
1
4,576
Low_value
0.665
0.231
0
0
Partial
0
null
0
0
Stable
3
19
4
1
0
Assisted
Limited_verbal
0
0
Home_school_medical
1
4
0
null
null
0
41
15
8.9
1
70,806
3.5
20,134
71.4
70.9
56.2
48.2
21.7
61.4
0
0
0
1
1
1
0
2
41
0
1
1
0
0
0
3
3.38
HCG5-0000273
Female
Black_non_Hispanic
Latin_America
Suburban
Low
Spanish
Commercial
SMA_type2
NM
83,418
253,550
AR
6.79
0.25
0.009
0.009
0
0
2
8
8
1
1
1
3.3
Single_gene
2.64
0
800
0
NBS_followup
48,398.66
6.8
Regression
55.8
57.2
26.9
24.1
49
0
0
0
4.38
1
0
null
1
54.1
0
1
0
0
1
0
0
0
0
-0.86
-0.48
0
1
0
0
320.93
22.79
21.87
5.66
3.59
20
2.2
0.169
590.8
663.3
38
26.1
5,373.5
1
Chaperone
null
null
null
null
0.46
18.08
414,944
Partial_coverage
0
0
20.23
1
4,000
High_value
0.662
0.497
0
0
Partial
0
null
0
0
Moderate
2
8
1
1
0
Wheelchair
AAC_device
0
0
Mainstream
1
1
1
7.44
Other
1
58.5
9.9
16.7
1
43,271
5.6
11,351
43.5
44.2
26.6
39.7
29.3
31.4
1
0
1
1
0
0
0
3.1
13
0
1
0
0
0
1
1
4.75
HCG5-0000274
Male
White_non_Hispanic
Europe
Rural
Middle
Spanish
Commercial
MLD
LD
512
250,100
AR
9.15
0.7
0.017
0.017
0
0
3
17
2
0
1
1
6.2
WES
1.88
0
4,500
1
NBS_followup
26,729.37
3.46
Profound_delay
48.2
45.2
32.5
31.5
84.3
1
0
1
0.93
8
0
null
0
107.8
0
1
1
0
1
0
1
1
0
-3.02
1.62
0
0
0
0
83.94
29.173
10.09
2.09
3.57
38.2
2.6
0.114
314.7
310.9
19.1
290.3
2,095.7
1
Small_molecule
null
null
null
Supportive_metabolic
0.34
12.52
711,786
Fully_covered
0
0
2.74
0
1,006
High_value
0.377
0.398
0
0
Partial
1
MUD
1
1
Stable
0
29
7
0
0
Bedbound
Nonverbal
1
0
Not_enrolled
1
1
1
8.11
Metabolic_crisis
1
62.8
5.9
12.1
1
25,648
4
7,909
29.7
44.3
62.8
35.2
30.7
57.6
0
0
1
0
0
1
1
89.1
17
1
0
0
0
0
0
11
0
HCG5-0000275
Male
White_non_Hispanic
Europe
Urban
Middle
Mandarin
Medicaid_CHIP
OTC
UCD
664
311,250
XLR
6.47
0.52
1.242
3.192
1.95
0
14
9
0
0
0
0
null
Metabolic
44.52
0
900
1
Metabolic_specialist
23,918.78
6.25
Regression
67.1
74
10
82.2
37.2
1
0
0
2.44
4
0
null
0
109.5
0
0
0
0
1
0
0
0
0
-0.99
-1.62
1
0
0
0
381.31
45.173
5.554
1.42
6.35
20
1.74
0.163
1,607.5
352.2
85.5
1,180.5
715.3
1
Supportive_only
null
null
null
null
null
39.63
0
Fully_covered
0
0
4.37
0
15,302
Intermediate
0.637
null
0
0
Not_applicable
0
null
0
0
Moderate
3
16
4
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
3
0
null
null
0
43.1
8.9
15.2
0
0
6
3,233
69.4
33
55.9
0
62.5
41.5
0
0
0
1
1
0
1
4.5
4
1
1
0
0
0
0
0
3.11
HCG5-0000276
Female
White_non_Hispanic
Asia_Pacific
Suburban
Middle
English
Commercial
PA
OA
35
606,054
AR
5.97
0.5
0.011
0.011
0
0
2
17
0
0
1
1
4.1
Panel
1.81
1
1,500
0
NBS_followup
3,994.26
7.16
Delayed
53.8
78.3
16
48.6
69.2
0
0
0
3.22
1
0
null
0
93.9
0
0
0
0
1
0
0
1
0
-1.78
-0.47
1
1
1
0
31.57
92.262
3.156
3.31
2.29
20
2.38
0.107
83.9
390.8
42.4
535.8
2,511.4
0
Supportive_only
null
null
null
null
null
0.96
0
Fully_covered
0
0
16.54
0
1,147
Intermediate
0.449
null
0
0
Not_applicable
0
null
0
0
Slow_progression
4
22
3
1
1
Assisted
Limited_verbal
0
1
Mainstream_with_support
1
1
1
14.74
Respiratory_failure
1
36.7
12.1
0
0
0
4.1
5,090
79.4
42.5
75.6
43
28.5
54.1
1
0
1
1
1
0
1
27.2
16
0
0
0
0
0
0
0
0.91
HCG5-0000277
Male
White_non_Hispanic
Europe
Urban
Middle
English
Medicaid
MERRF
MITO
551
545,000
MT
6.65
0.22
9.537
12.891
3.354
2
8
16
2
0
0
0
null
Single_gene
9.05
1
800
1
NBS_followup
20,187.11
6.88
Regression
38.6
29.4
46.5
65.6
37.4
0
0
1
1.68
8
0
null
0
78.6
0
0
0
0
0
0
1
1
0
-2.75
-3.37
0
1
0
0
123.15
14.999
16.291
5.77
3.45
134.5
1.91
0.164
220.2
526.8
20
532
4,464.2
0
Supportive_only
null
null
null
null
null
39.9
0
Fully_covered
0
0
11.52
0
717
Intermediate
0.288
null
0
0
Not_applicable
0
null
0
0
Rapid
2
30
4
0
1
Wheelchair
AAC_device
0
0
Mainstream_with_support
1
4
0
null
null
0
24.7
3.6
9
1
38,143
5.7
16,614
44.5
65.7
72.8
60.5
50
35.5
0
0
1
1
0
0
0
187.2
4
1
0
0
0
0
0
2
1
HCG5-0000278
Female
Hispanic
North_America
Rural
Low
English
Commercial
EB_dystrophic
DERM
305
131,750
AD
6.72
0.18
0.14
2.46
2.32
6
13
9
2
1
0
0
null
Panel
20.43
0
1,500
1
Geneticist
33,156.59
3.51
Regression
68.1
65.5
50.3
67.2
118.2
0
0
1
3.25
0
0
null
1
52.9
1
0
0
0
0
0
0
0
0
-3.39
-1.15
1
0
0
0
135.6
62.196
27.394
3.08
7.23
20
1.09
0.237
37.2
253.4
25.1
231.7
308.3
0
Supportive_only
null
null
null
null
null
38.94
0
Denied
1
0
5.28
0
1,147
Cost_saving
0.392
null
0
0
Not_applicable
0
null
0
0
Slow_progression
0
14
0
0
0
Wheelchair
AAC_device
0
0
Special_ed
1
6
0
null
null
0
53.2
14.1
18.1
1
47,574
4.9
2,630
52.6
17
48
37.3
7.6
46.8
0
0
1
1
0
0
0
3.4
13
1
0
1
1
0
0
2
4.65
HCG5-0000279
Female
Black_non_Hispanic
Europe
Suburban
Low
English
Uninsured
HLH
IMM
540
267,700
AR
8.03
0.8
0.506
1.668
1.162
4
10
10
0
1
0
0
null
Panel
1.52
0
1,500
1
Geneticist
33,140.01
6.21
Profound_delay
13.5
64.1
37.2
52.5
47.9
0
0
0
2.33
8
0
null
0
103
0
0
1
0
0
0
1
1
0
0.47
1.2
0
0
0
0
350.13
28.235
7.694
10.04
3.49
25.3
3.76
0.13
647.9
362.4
24.3
155.9
100
0
Supportive_only
null
null
null
null
null
13.59
0
Prior_auth_required
0
0
2.93
0
673
High_value
0.727
null
0
0
Not_applicable
0
null
0
0
Rapid
5
29
1
1
0
Bedbound
Nonverbal
1
1
Mainstream
1
5
0
null
null
1
40.4
23.1
5.6
0
0
7.1
2,533
65.9
6.7
75.2
61.5
40.1
37.6
0
0
1
1
0
0
0
41.9
18
0
0
0
0
0
1
4
0.73
HCG5-0000280
Male
White_non_Hispanic
North_America
Urban
Low
Spanish
Medicaid
Gaucher_type1
LSD
355
230,800
AR
5.15
0.05
1.317
5.761
4.443
2
8
4
1
1
0
0
null
null
90.35
0
0
1
Other
247,526.49
5.56
Delayed
81.5
72.3
14
42.3
88.4
1
1
0
1.06
8
0
null
1
106.6
0
0
0
0
1
0
0
1
1
-1.88
-1.65
0
0
1
0
1,065.08
6.844
35.473
6.83
0.63
44.6
5.44
0.114
931.5
347.3
85.3
2,618.2
1,733.7
1
ERT
Taliglucerase
null
null
null
6.46
17.7
168,728
Prior_auth_required
0
0
0.2
1
444
Intermediate
0.55
0.516
1
1
Non_responder
0
null
0
0
Slow_progression
3
20
1
0
0
Assisted
Limited_verbal
0
0
Special_ed
1
1
0
null
null
0
53.4
7.7
8.9
0
0
4
12,522
43.5
40.8
39.2
76.6
68.3
53.8
1
0
1
0
0
1
0
50.3
9
0
0
0
1
1
0
4
3.74
HCG5-0000281
Female
White_non_Hispanic
Asia_Pacific
Urban
Low
English
Commercial
MPS_I_Hurler
LSD
579
607,014
AR
8.75
0.8
0.016
0.016
0
0
4
14
1
1
1
1
5.7
WES
1.45
1
4,500
1
NBS_followup
34,643.39
8.44
Profound_delay
36.1
55.3
71.3
49.6
59.2
0
1
0
2.73
1
0
null
1
28.9
1
0
0
1
0
0
0
0
1
-2.23
-2.44
0
0
0
1
225.36
19.388
8.615
5.42
3.48
97.7
2.18
0.226
697.4
512.6
61.6
950.5
838.6
1
ERT
Laronidase
null
null
null
0.27
19.22
1,134,658
Partial_coverage
0
0
1.59
0
4,098
Intermediate
0.329
0.792
0
1
Responder
1
MUD
0
1
Stable
2
17
0
0
1
Bedbound
Nonverbal
1
0
Home_school_medical
1
2
0
null
null
0
53.1
26.3
15.4
1
240,152
4.2
8,933
65
32
100
56.5
32.6
22.7
1
1
1
0
0
0
0
10
10
1
0
0
0
1
0
1
2.44
HCG5-0000282
Male
White_non_Hispanic
North_America
Urban
Middle
English
Uninsured
MPS_IV_Morquio
LSD
582
253,000
AR
5.65
0.3
3.003
15.198
12.194
4
5
15
1
1
0
0
null
Single_gene
97.95
0
800
0
Geneticist
47,435.72
6.94
Delayed
63.3
28.3
30.3
55.3
66.7
0
0
0
4.42
0
0
null
1
90
0
0
0
0
1
0
0
1
1
-3.17
-1.64
0
0
1
1
126.3
24.638
13.136
6.73
3.52
20
2.72
0.238
210.7
1,390.9
40.7
620.7
6,894.6
1
Small_molecule
null
null
null
Supportive_metabolic
15.31
3.7
684,916
Partial_coverage
0
0
5.08
1
353
High_value
0.589
0.847
0
0
Partial
0
null
0
0
Rapid
7
27
0
1
1
Assisted
Limited_verbal
0
0
Special_ed
0
5
1
18
Neurodegeneration
1
51.4
8.5
7.9
1
9,373
4.4
26,447
81.9
43.9
35.2
65.1
62.6
47.9
1
0
1
0
0
1
0
72.1
17
1
0
0
0
0
0
1
0
HCG5-0000283
Female
Black_non_Hispanic
North_America
Suburban
Middle
English
Medicaid
MPS_VI_Maroteaux
LSD
583
253,200
AR
6.38
0.32
2.622
8.572
5.95
3
17
14
2
1
0
0
null
Panel
4.62
0
1,500
0
Metabolic_specialist
76,762.14
7.65
Regression
49.1
41.6
38.2
90.9
74.4
0
0
0
1.22
0
0
null
0
93.4
0
0
0
0
0
0
1
1
1
-0.49
-1.38
0
0
1
1
90.17
10.454
9.985
1.48
7.47
213.8
3.73
0.196
41
252.9
34.6
252.3
1,248.4
1
ERT
Galsulfase
null
null
null
9.01
10.59
29,099
Prior_auth_required
0
0
5.15
0
3,116
High_value
0.549
0.613
0
0
Responder
0
null
0
0
Stable
3
26
2
0
0
Wheelchair
AAC_device
0
0
Home_school_medical
1
4
0
null
null
0
44.8
11.6
14.5
1
24,334
6.2
15,193
31.8
42.2
73.4
61.2
6.9
28.9
1
1
0
1
0
0
0
44.1
20
0
0
0
0
1
0
0
2.51
HCG5-0000284
Female
Asian
North_America
Urban
Low
English
Commercial
SMA_type2
NM
83,418
253,550
AR
7.26
0.25
0.029
0.029
0
0
3
13
2
1
1
1
10.7
Single_gene
0.36
1
800
1
NBS_followup
43,758.94
6.22
Regression
78.6
80.9
22.7
74.4
87.8
0
0
0
1.62
2
0
null
1
73
0
0
1
1
0
0
0
0
0
-0.59
0.82
0
0
0
0
417.82
8.701
37.07
3.01
2.44
20
2.04
0.137
220.6
379.7
37.8
128.7
2,463.7
1
Gene_therapy
null
Onasemnogene_abeparvovec
null
null
0.55
26.55
2,413,530
Partial_coverage
0
0
9.68
0
290
Low_value
0.364
0.662
0
0
Partial
0
null
0
0
Slow_progression
3
22
0
0
0
Wheelchair
AAC_device
1
0
Special_ed
0
5
0
null
null
0
30
16.1
7.8
1
105,768
6
3,520
27.7
44.6
81.1
64.8
22.3
40.2
1
0
1
1
0
0
1
107.3
12
1
0
0
0
0
0
5
1.07
HCG5-0000285
Male
Asian
Asia_Pacific
Urban
Middle
Spanish
Uninsured
CPS1
UCD
147
237,300
AR
7.27
0.62
0.01
1.877
1.867
4
19
12
5
1
0
0
null
WES
15.89
0
4,500
0
Neurologist
24,898.33
7.83
Regression
57.2
49.6
76.4
45.4
72.5
0
0
0
2.56
0
0
null
0
92.1
0
0
1
1
0
0
0
0
0
-0.82
0.21
1
0
0
0
149.18
8.442
18.98
1.95
1.38
72.1
2.49
0.128
108.5
249.5
155.5
802.4
1,499.7
1
HSCT
null
null
null
null
3.21
1.4
733,253
Denied
1
1
11.49
0
132
Cost_saving
0.286
0.794
0
0
Partial
0
null
0
0
Slow_progression
5
17
3
0
0
Wheelchair
AAC_device
1
0
Special_ed
1
6
1
14.01
Cardiac
1
54.4
12.9
10.6
0
0
5.4
28,763
22.8
36
60.9
40.4
59.2
45.3
1
0
1
1
0
0
1
51.6
14
0
0
0
0
0
0
6
0
HCG5-0000286
Female
White_non_Hispanic
North_America
Rural
Middle
Spanish
Uninsured
Gaucher_type1
LSD
355
230,800
AR
4.28
0.05
7.333
13.339
6.007
3
9
14
2
1
0
0
null
WES
15.84
0
4,500
1
Geneticist
25,007.51
7.28
Delayed
66.4
115.7
78.9
105.8
78.8
0
0
0
2.74
1
0
null
0
118.9
1
0
0
0
1
0
1
0
1
-1.87
0.52
0
0
0
0
109.6
13.61
11.559
6.1
1.38
28.1
1.95
0.145
740.4
285.9
37.9
174.6
385.3
1
ERT
Imiglucerase
null
null
null
15.05
16.75
1,275,776
Fully_covered
0
0
36
1
6,363
High_value
0.22
0.384
0
0
Responder
0
null
0
0
Slow_progression
4
11
5
0
0
Assisted
Limited_verbal
0
0
Mainstream_with_support
1
5
0
null
null
0
57.2
2.1
13.4
1
45,099
6.5
8,306
50
80.5
43.8
43.3
68.2
59.7
0
0
1
1
0
0
0
31.9
26
1
1
0
0
0
0
2
0.19
HCG5-0000287
Male
White_non_Hispanic
Asia_Pacific
Suburban
Middle
English
Medicaid
HCU_homocystinuria
OA
394
236,200
AR
6.14
0.08
0.006
0.006
0
0
3
8
0
0
1
1
2
Single_gene
1.55
0
800
1
NBS_followup
19,622.08
6.99
Regression
53.8
37.6
47.1
66.6
75.8
1
0
0
2.29
3
0
null
0
95.3
0
0
0
0
0
0
0
0
0
-0.9
-0.35
1
1
0
0
469.32
10.194
13.052
1.97
12.16
103.3
1.6
0.161
146.6
213.2
81.5
266.8
1,864.1
0
Supportive_only
null
null
null
null
null
10.98
0
Partial_coverage
0
0
3.34
0
173
Intermediate
0.124
null
0
0
Not_applicable
0
null
0
0
Stable
3
24
2
1
0
Wheelchair
AAC_device
0
0
Special_ed
1
6
0
null
null
0
79.5
14.3
5.1
1
18,182
3.1
12,407
32
64.1
45
39.7
90.8
22.7
1
0
1
0
1
0
1
81.3
4
1
0
0
0
0
0
6
0.1
HCG5-0000288
Male
White_non_Hispanic
Asia_Pacific
Urban
High
English
Medicaid
Barth_syndrome
MITO
111
302,060
XLR
6.97
0.35
0.97
8.234
7.264
7
4
27
0
0
0
0
null
Panel
13.27
0
1,500
1
Geneticist
40,126.41
8.51
Regression
52
86.5
39.8
22.9
101.7
0
0
0
4.39
5
1
Moderate
0
73.7
0
0
1
0
1
0
0
0
0
-2.79
-1.39
0
0
0
0
583.63
67.179
4.179
4.79
4.31
625.5
3.04
0.083
142.9
169.8
35.5
481.7
480
1
Small_molecule
null
null
null
Elamipretide
8.51
19.89
70,021
Partial_coverage
0
0
1.15
1
4,954
Intermediate
0.302
0.661
0
0
Responder
0
null
0
0
Stable
3
16
0
0
0
Wheelchair
AAC_device
0
0
Not_enrolled
1
2
0
null
null
0
39.3
13.6
6.7
1
12,609
5.5
4,312
72.1
42.8
38.6
67.9
63.1
20.4
0
0
0
1
0
0
1
220.7
13
1
0
0
0
0
0
1
2.44
HCG5-0000289
Male
Black_non_Hispanic
North_America
Urban
Middle
English
Commercial
Fabry
LSD
324
301,500
XLR
4.43
0.04
0.582
6.138
5.557
1
6
12
4
0
0
0
null
MLPA
5.88
0
1,000
0
Other
23,079.76
8.25
Delayed
114.4
60.9
72.8
69.7
65.2
0
0
0
2.48
6
1
Moderate
1
64.9
1
0
0
0
0
1
0
0
1
-1.54
-1.64
0
0
0
0
69.45
2.445
1.632
3.93
11.62
24.8
3.03
0.112
3,323.5
659.5
145.1
308.1
457.1
1
Gene_therapy
null
Clinical_trial
null
null
6.54
2.46
84,419
Fully_covered
0
0
2.9
0
3,419
Intermediate
0.388
0.688
0
0
Responder
0
null
0
0
Moderate
0
11
5
0
0
Assisted
Limited_verbal
1
0
Mainstream
1
4
0
null
null
0
30.9
10.8
14.7
1
25,971
5.8
10,248
41.6
71
63
43.2
79.4
66.3
1
1
0
0
0
0
0
249.2
16
1
0
0
0
0
0
5
0
HCG5-0000290
Male
White_non_Hispanic
Asia_Pacific
Rural
High
English
Medicaid
CGD
IMM
379
306,400
XLR
5.42
0.25
0.01
11.818
11.808
1
7
19
0
0
0
0
null
WGS
2.5
0
8,500
1
Geneticist
47,213.86
8.18
Delayed
41.1
82.8
35.9
95.9
27.8
0
1
1
6.65
2
0
null
0
112.8
0
0
1
0
0
0
0
0
0
-1.87
0.29
0
0
0
0
40.59
24.536
7.551
7.24
13.23
35.8
3.87
0.273
638.5
436.2
19
1,346.1
603.3
1
HSCT
null
null
null
null
16.6
4.4
2,368,987
Fully_covered
0
0
30.24
1
3,313
High_value
0.647
0.614
0
0
Responder
0
null
0
0
Stable
8
49
1
0
0
Assisted
Limited_verbal
1
0
Mainstream
1
2
0
null
null
0
30
13.1
6.4
1
71,858
6
3,651
49.1
0
76.2
52
30.4
43.6
0
0
1
1
0
1
0
105.5
18
1
0
0
0
0
1
6
0.73
HCG5-0000291
Male
Black_non_Hispanic
North_America
Suburban
Low
Spanish
Medicaid
Gaucher_type1
LSD
355
230,800
AR
3.78
0.05
4.455
9.375
4.921
1
8
14
2
1
0
0
null
WES
14.63
1
4,500
0
Geneticist
10,848.93
6.61
Delayed
94.9
70.9
81.5
59.8
53.9
1
1
0
5.74
1
0
null
0
88
0
0
1
0
1
0
1
0
1
-1.48
2.14
0
1
0
0
164.39
35.712
10.231
1.72
1.7
20
2.22
0.18
889.9
382.4
78.6
57.3
552.6
1
ERT
Velaglucerase
null
null
null
11.04
2.15
60,475
Denied
0
0
6.76
1
1,121
Intermediate
0.568
0.769
0
0
Responder
0
null
0
0
Stable
6
26
0
0
0
Ambulatory
Verbal
0
0
Special_ed
1
3
0
null
null
0
44.3
14.8
10.6
1
24,216
5.9
735
67
61.5
73.6
52.9
55.4
19.9
0
0
1
0
0
0
0
134.8
26
1
0
0
0
0
0
2
0.56
HCG5-0000292
Female
Black_non_Hispanic
North_America
Suburban
Middle
English
Medicaid
CDKL5_encephalopathy
SYN
3,095
300,672
XLD
8.34
0.22
0.057
7.825
7.768
1
13
31
1
0
0
0
null
WES
3.06
0
4,500
1
Neurologist
30,704.47
8.68
Profound_delay
56
50.5
30.1
44.5
29.1
1
0
1
2.95
4
0
null
0
42.4
1
0
0
0
0
0
0
1
0
-3.98
-1.91
0
1
1
0
57.96
9.332
19.651
6.43
1.59
20
1.08
0.27
132.4
235.8
26.3
263.5
1,464.9
0
Supportive_only
null
null
null
null
null
2.12
0
Partial_coverage
0
0
16.63
0
674
High_value
0.455
null
0
0
Not_applicable
0
null
0
0
Rapid
3
26
0
0
0
Bedbound
Nonverbal
1
0
Not_enrolled
1
3
0
null
null
0
59.9
8.2
16
1
36,522
6.1
37,915
34.3
58.2
56.4
54.9
13.8
44.7
0
0
1
0
0
1
1
26.5
18
1
0
0
1
0
0
0
2.33
HCG5-0000293
Male
White_non_Hispanic
Asia_Pacific
Urban
High
English
Medicaid
Fabry
LSD
324
301,500
XLR
7.43
0.04
0.01
4.425
4.415
3
15
17
5
1
0
0
null
null
2.78
0
0
1
Geneticist
108,755.83
9.41
Regression
79.4
65.2
58.9
25.9
37.5
0
0
0
2.47
0
1
Mild
0
85.5
0
0
0
1
1
0
1
0
1
0.44
-2.03
0
1
1
0
50.55
18.016
10.519
1.9
2.96
20
4.33
0.248
65.3
351.6
210.5
2,570.5
1,221.7
1
ERT
Agalsidase_beta
null
null
null
10.29
24.88
225,007
Fully_covered
0
0
4.03
1
1,076
High_value
0.083
0.785
0
0
Responder
0
null
0
0
Stable
2
25
0
0
0
Wheelchair
AAC_device
1
0
Special_ed
1
5
0
null
null
0
60.4
16.4
11.3
1
26,271
6.3
2,593
51.6
32.5
30.6
65.9
70.3
43.1
0
0
0
1
0
0
0
40.9
8
1
0
0
0
0
0
7
0.58
HCG5-0000294
Male
White_non_Hispanic
Latin_America
Urban
High
English
Commercial
HLH
IMM
540
267,700
AR
9.68
0.8
1.232
1.353
0.121
1
6
8
0
1
0
0
null
WES
7.53
0
4,500
1
Neurologist
21,978.91
4.65
Profound_delay
48.4
28.3
42.4
14.3
25.2
0
0
0
3.3
1
0
null
1
57.2
0
0
1
1
0
0
0
0
0
0.14
-2.22
0
1
0
0
64.03
16.315
7.986
2.07
5.77
35.7
1.43
0.146
880.2
204.8
72.8
656.4
2,402.2
0
Supportive_only
null
null
null
null
null
5.22
0
Denied
0
0
4.26
0
3,037
High_value
0.473
null
0
0
Not_applicable
1
Haplo
0
1
Slow_progression
13
26
5
0
0
Bedbound
Nonverbal
1
0
Mainstream_with_support
1
4
1
8.97
Other
1
71.7
10.2
12.8
0
0
8.1
3,528
57.4
47.7
85
60.9
34.4
43.3
0
0
1
1
0
0
1
91.4
5
1
0
0
0
0
0
6
2.19
HCG5-0000295
Female
White_non_Hispanic
North_America
Urban
Middle
Other
Commercial
Rett
SYN
778
312,750
XLD
5.9
0.12
2.472
8.55
6.078
2
13
17
2
0
0
0
null
Metabolic
16.96
0
900
0
Geneticist
141,308.6
3.08
Delayed
61.7
78.6
46.2
45.8
65.3
1
0
1
3.34
2
1
Mild
0
87
0
0
0
1
0
1
0
0
0
-3.18
0.93
0
0
0
0
516.22
20.705
0.858
4
0.94
20
1.42
0.147
1,466.3
360.1
13.6
197
374.6
0
Small_molecule
null
null
null
Supportive_metabolic
10.6
4.81
651,123
Denied
1
1
1.43
1
1,372
Low_value
0.124
0.48
0
0
Responder
0
null
0
0
Stable
5
43
0
1
0
Assisted
Limited_verbal
0
0
Not_enrolled
1
6
0
null
null
0
52.1
22
18.2
0
0
6.6
3,309
100
35.7
56.9
21
60.9
53.1
0
1
0
1
1
0
1
71.6
13
1
1
0
0
0
0
10
0.79
HCG5-0000296
Male
White_non_Hispanic
Europe
Suburban
Middle
Spanish
Commercial
22q11_2_DiGeorge
SYN
567
188,400
AD
5.85
0.08
0.617
4.506
3.889
4
13
11
2
1
0
0
null
Single_gene
80.46
0
800
0
Metabolic_specialist
31,172.9
8.88
Delayed
80.3
58.7
16
38.7
71.5
1
0
0
2.24
7
1
Mild
0
77.1
0
0
0
0
0
0
0
0
0
-1.11
-0.47
0
0
0
0
347.37
40.312
19.579
11.65
5
20
1.62
0.243
52.3
431.3
23.3
589.2
1,405.7
0
Supportive_only
null
null
null
null
null
33.1
0
Partial_coverage
0
0
4.96
0
572
Intermediate
0.577
null
0
0
Not_applicable
0
null
0
0
Rapid
5
10
2
1
0
Assisted
Limited_verbal
0
0
Mainstream_with_support
1
4
0
null
null
0
29.9
19
21
1
35,864
4
38,128
62.2
55.2
53.1
63.8
0
22.3
0
0
0
1
0
1
1
106.9
3
1
1
0
0
0
0
3
2.76
HCG5-0000297
Male
White_non_Hispanic
North_America
Urban
Middle
English
Commercial
Diastrophic
SKEL
628
222,600
AR
4.59
0.1
0.045
0.278
0.233
1
9
13
3
0
0
0
null
Panel
29.35
1
1,500
1
Geneticist
25,569.17
6.58
Delayed
74.3
74.9
62.7
58.4
78.6
0
0
1
2.86
2
0
null
0
117.1
0
0
0
0
0
0
0
1
0
-3.58
0.49
0
0
0
0
2,116.41
37.19
14.73
2.29
4.78
20
0.78
0.224
131.5
278.3
72.2
232.2
1,117.3
0
HSCT
null
null
null
null
2.87
6.84
570,950
Fully_covered
0
0
6.75
0
7,651
Intermediate
0.582
0.653
0
0
Responder
0
null
0
0
Moderate
7
21
0
1
0
Assisted
Limited_verbal
0
0
Mainstream_with_support
0
1
0
null
null
1
49
6.4
10.8
1
29,682
6.8
10,061
30.1
26.2
67.2
58.7
0
49.1
0
0
1
1
0
1
0
266.7
7
0
0
1
0
0
0
3
1.98
HCG5-0000298
Female
Hispanic
Europe
Urban
Middle
English
Medicaid_CHIP
Achondroplasia
SKEL
15
100,800
AD
3.99
0.04
0.05
0.852
0.802
0
4
9
0
0
0
0
null
Single_gene
46.21
0
800
1
Metabolic_specialist
29,880.36
4.42
Delayed
87.6
25
41.6
107.1
60.8
0
0
1
6.6
1
0
null
0
35.8
0
0
0
0
0
0
0
0
0
-1.7
-1.21
0
0
1
0
95.4
12.936
25.342
1.08
1.21
254.4
1.95
0.245
81.7
250
70.8
1,227.8
2,211.4
0
Supportive_only
null
null
null
null
null
28.79
0
Fully_covered
0
0
14.6
0
339
Low_value
0.429
null
0
0
Not_applicable
0
null
0
0
Rapid
0
21
0
0
0
Ambulatory
Verbal
0
0
Mainstream_with_support
0
3
0
null
null
0
15.8
19.6
7.9
1
18,942
5.6
11,696
72.4
72.1
32.5
64.4
93.8
40.4
0
0
0
0
0
0
1
48.1
37
0
0
0
0
0
1
7
2.42
HCG5-0000299
Female
White_non_Hispanic
Europe
Suburban
Middle
English
Medicaid
Congenital_myopathy
NM
97,245
160,150
AR
5.79
0.18
1.033
4.056
3.024
1
8
16
1
1
0
0
null
Karyotype
21.19
0
1,200
1
Geneticist
20,327.28
5.22
Delayed
88.1
57.7
61.1
61.7
88.3
1
0
1
0.64
7
0
null
1
57.1
0
1
0
0
1
0
0
0
0
-4.43
0.59
1
0
0
0
685.29
5.732
12.485
2.1
1.24
365.5
3.23
0.164
436
285.4
67.2
603.9
2,320.1
0
Small_molecule
null
null
null
Supportive_metabolic
4.14
3.14
497,642
Prior_auth_required
0
0
11.08
1
220
High_value
0.567
0.841
0
0
Responder
0
null
0
0
Stable
7
3
2
1
0
Assisted
Limited_verbal
0
0
Special_ed
1
2
0
null
null
0
41.8
15.2
14.6
0
0
5.1
16,326
61
48.7
59.3
50.2
100
48.3
1
0
0
1
0
0
0
10.7
23
1
0
0
0
0
0
0
0