| Topic |
GTE Synopsis |
GTE Report |
| Alport Syndrome |
✓ |
✓ |
| ALS/Lou Gehrig’s Disease |
✓ |
✓ |
| Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) |
✓ |
✓ |
| Brugada Syndrome |
✓ |
✓ |
| CADASIL |
✓ |
✓ |
| Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) |
✓ |
✓ |
| CPT2 Deficiency |
✓ |
Pending |
| Cerebral Cavernous Malformations (CCM) |
✓ |
✓ |
| Chromosome 22q11.2 Deletion Syndrome |
✓ |
✓ |
| Collagen Type IV-Related Disorders |
✓ |
Pending |
| Connexin 26 and Connexin 30 Testing for Nonsyndromic Hearing Loss |
✓ |
✓ |
| Dentatorubral-Pallidoluysian Atrpphy (DRPLA) |
✓ |
✓ |
| Early-Onset Alzheimer Disease |
✓ |
✓ |
| Ehlers-Danlos Syndrome, Classic Type |
✓ |
Pending |
| Ehlers-Danlos Syndrome, Type IV |
✓ |
Pending |
| Episodic Ataxia |
✓ |
✓ |
| Familial Dilated Cardiomyopathy |
✓ |
✓ |
| Familial Hypertrophic Cardiomyopathy |
✓ |
✓ |
| Familial Hemophagocytic Lymphohistiocytosis |
✓ |
Pending |
| Familial Transthyretin Amyloidosis |
✓ |
Pending |
| Friedreich Ataxia |
✓ |
✓ |
| Hemophilia A |
✓ |
✓ |
| Hereditary Hemorrhagic Telangiectasia |
✓ |
Pending |
| Hereditary Neuralgic Amyotrophy |
✓ |
Pending |
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
✓ |
Pending |
| Hereditary Pulmonary Arterial Hypertension |
✓ |
Pending |
| Hereditary Spastic Paraplegia |
✓ |
Pending |
| Hunter Syndrome |
✓ |
✓ |
| Leri-Weill Dyschondrosteosis |
✓ |
✓ |
| Leber Hereditary Optic Neuropathy (LHON) |
✓ |
✓ |
| Maturity-Onse Diabetes of the Young (MODY) |
✓ |
✓ |
| Neurofibromatosis Type 1 |
✓ |
✓ |
| Noonan Syndrome |
✓ |
✓ |
| Oculopharyngeal Muscular Dystrophy |
✓ |
✓ |
| Osteogenesis Imperfecta Types I to IV
|
✓ |
✓ |
| PTEN Hamartoma Tumor Syndrome |
✓ |
✓ |
| PTEN Autism/Macrocephaly Syndrome |
✓ |
✓ |
| Sotos Syndrome |
✓ |
Pending |
| Spinal and Bulbar Muscular Atrophy (SBMA) |
✓ |
✓ |
| Spinal Muscular Atrophy (SMA) |
✓ |
✓ |
| Spinocerebellar Ataxia |
✓ |
✓ |
| Stickler Syndrome |
✓ |
Pending |
| Townes-Brocks Syndrome |
✓ |
✓ |
| TP63-Related Disorders |
✓ |
Pending |
| TCF4 Testing for Pitt-Hopkins Syndrome |
✓ |
✓ |
| Tuberous Sclerosis Complex |
✓ |
✓ |
| Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) |
✓ |
✓ |
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