Table 1.
List of inherited conditions tested in this study.
| Clinical Diagnosis | Abbreviation | Category | Genes Included in the Panel | OMIM# |
|---|---|---|---|---|
| Agammaglobulinemia, X-linked, Type I | XLA | Immunodeficiency | BTK | 300755 |
| Argininosuccinate Lyase Deficiency | ASA | Metabolic disorder | ASL | 207900 |
| Arylsulfatase A Deficiency | AAD | Leukodystrophy | ARSA | 250100 |
| Ataxia Neuropathy Spectrum/Alpers Syndrome | ANS | Multisystemic disorder | POLG | 203700 |
| Ataxia-telangiectasia | AT | Multisystemic disorder | ATM | 208900 |
| Biotinidase Deficiency | BTD deficiency | Metabolic disorder | BTD | 253260 |
| Canavan Disease | CD | Leukodystrophy | ASPA | 271900 |
| Cystic Fibrosis | CF | Multisystemic disorder | CFTR | 219700 |
| Galactosemia | Galactosemia | Metabolic disorder | GALT | 230400 |
| Gaucher Disease | GD | Multisystemic disorder | GBA | 230800 |
| Glycine Encephalopathy | GCE | Metabolic disorder | GCSH, GLDC, AMT | 605899 |
| Glycogen Storage Disease Type VI | GSD6 | Metabolic disorder | GBE1 | 232700 |
| Hunter Syndrome/Mucopolysaccharidosis, Type II (MPS II) | MPS II | Metabolic disorder | IDS | 309900 |
| Hypochondroplasia | HCH | Skeletal dysplasia | FGFR3 | 146000 |
| Inherited Deafness | ID | Deafness | GJB2, GJB3, GJB6, COL11A2, KCNQ4 | 220290 |
| Maple syrup Urine Disease | MSUD | Metabolic disorder | BCKDHA, BCKDHB, DBT, DLD | 248600 |
| Marshall syndrome | MRSHS | Skeletal dysplasia | COL11A1 | 154780 |
| Methylmalonic Acidemia | MMA | Metabolic disorder | MMAA, MMAB, MMACHC, MUT | 251100 |
| Noonan Syndrome (Types 1, 3, 4, 5 ,6) | NS | Multisystemic disorder | KRAS, NRAS, PTPN11, RAF1, SOS1 | 163950/609942/610733/611533/613224 |
| Ornithine Transcarbamylase Deficiency | OTD | Metabolic disorder | OTC | 311250 |
| Phenylketonuria | PKU | Metabolic disorder | PAH | 261600 |
| Pompe Disease/Glycogen Storage Disease II (GSD II) | GSDII | Metabolic disorder | GAA | 232300 |
| Smith-Lemli-Optiz Syndrome | SLOS | Metabolic disorder | DHCR7 | 270400 |
| Usher Syndrome Type 1 | USH1 | Deafness | PCDH15, USH1C, CDH23, MYO7A | 276900/601067 |
| Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency | ACADVLD | Metabolic disorder | ACADVL | 201475 |
| Wiskott-Aldrich Syndrome | WAS | Immunodeficiency | WAS | 301000 |
| X-Linked Adrenoleukodystrophy | ALD | Leukodystrophy | ABCD1 | 300100 |