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Coding Topics for Single Gene
| Topic | GTE Synopsis | GTE Report |
| Alpha-1-Antitrypsin Deficiency (AATD) | ✓ | Pending |
| Alpha-Thalassemia | ✓ | Pending |
| Angelman Syndrome (AS) | ✓ | ✓ |
| Angiotensin Receptor 1 (AGTR1) c.1166A>C Polymorphism Testing for Essential Hypertension | ✓ | Pending |
| Angiotensin-Converting Enzyme (ACE) Insertion/Deletion (I/D) Polymorphism Testing | ✓ | Pending |
| Ashkenazi Jewish Genetic Screening Panels ** | ✓ | ✓ |
| Beta-2 Adrenergic Receptor (ADRB2) Testing for Asthma Susceptibility | ✓ | Pending |
| Beta-thalassemia | ✓ | Pending |
| Biotinidase (BTD) Gene Sequencing for Biotinidase Deficiency | ✓ | Pending |
| BRCA1 and BRCA2 Rearrangements | ✓ | ✓ |
| BRCA1/2 Sequence Variant Analysis (Breast Cancer) | ✓ | ✓ |
| BRCA1/2 Sequence Variant Analysis (Ovarian Cancer) | ✓ | ✓ |
| Charcot-Marie-Tooth Neuropathy, Type 1 (CMT1) | ✓ | Pending |
| Chemokine CC Motif Receptor 5 (CCR5) CCR5-∆32 Polymorphism for Predict Resistance to Human Immunodeficiency Virus (HIV) Infection | ✓ | N/A * |
| Complement Factor 4 (CFH) p.Tyr402His and ARMS p.Ala69Ser Polymorphism Testing for Susceptibility to Age-Related Macular Degeneration (ARMD) | ✓ | Pending |
| Cystic Fibrosis Transmembrane Regulator (CFTR) for Cystic Fibrosis | ✓ | Pending |
| Cytochrome P450 21A2 (CYP21A2) Testing for Congenital Adrenal Hyperplasia | ✓ | Pending |
| DNA Polymerase Gamma (POLG)-Related Disorders | ✓ | Pending |
| Facioscapulohumeral Muscular Dystrophy (FSHMD) | ✓ | Pending |
| Factor V (F5) HR2 Haplotype Testing | ✓ | Pending |
| Factor V Leiden for Hypercoagulation | ✓ | ✓ |
| Factor VII (F7) p.Arg353Gln Polymorphism Testing | ✓ | Pending |
| Factor XI Deficiency | ✓ | ✓ |
| Factor XIIIA1 (F13A1) p.Val34Leu Polymorphism Testing | ✓ | Pending |
| Familial Mediterranean Fever (FMF) | ✓ | Pending |
| Fibrinogen-Beta (FGB) c.-455G>A Polymorphism Testing | ✓ | Pending |
| Fibroblast Growth Factor Receptor 3 (FGFR3) Testing | ✓ | Pending |
| FMR1 Testing in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) | ✓ | ✓ |
| Forkhead Box Protein G1 (FOXG1) for Congenital Variant Form of Rett Syndrome | ✓ | ✓ |
| Fragile X Syndrome (FMR1) | ✓ | ✓ |
| Galactose-1-Phosphate Uridylyltransferase (GALT) Testing for Galactosemia | ✓ | Pending |
| Generalized Epilepsy with Febrile Seizures Plus (GEFS+) | ✓ | ✓ |
| Hereditary Paraganglioma-Pheochromocytoma Syndromes (PGL/PCC) | ✓ | Pending |
| HFE-Associated Hemochromatosis | ✓ | ✓ |
| Huntington Disease | ✓ | ✓ |
| Late-Onset Familial Alzheimer Disease (AD2) | ✓ | ✓ |
| Limb-Girdle Muscular Dystrophy (LGMD) | ✓ | Pending |
| Long QT Syndrome (Familion) | ✓ | ✓ |
| Lynch Syndrome | ✓ | ✓ |
| Marfan Syndrome | ✓ | ✓ |
| MECP2 Testing in Rett syndrome and other disorders | ✓ | ✓ |
| Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) | ✓ | Pending |
| Methylenetetrahydrofolate Reductase (MTHFR) C677T for Hypercoagulation | ✓ | ✓ |
| Multiple Endocrine Neoplasia Type 2 (MEN2) | ✓ | Pending |
| Myotonic Dystrophy Types 1 and 2 | ✓ | ✓ |
| Neurofibromatosis Type 1 (NF1) | ✓ | ✓ |
| Phenylketonuria (PKU) | ✓ | Pending |
| Prader-Willi syndrome (PWS) | ✓ | ✓ |
| Primary Congenital Glaucoma (PCG) | ✓ | Pending |
| Prothrombin G20210A for Hypercoagulation | ✓ | ✓ |
| Ryanodine Receptor 1 (RYR1) Testing for Malignant Hyperthermia Susceptibility (MHS) | ✓ | Pending |
| Serpin Peptidase Inhibitor, Clade E, Member 1 (SERPINE1) 4G/5G Polymorphism Testing | ✓ | Pending |
| Sickle cell Disease | ✓ | Pending |
| Tay-Sachs Disease (TSD) Testing in Individuals of Non-Jewish Origin | ✓ | ✓ |
| Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) | ✓ | ✓ |
| Thyroid Hormone Receptor Beta (THRB) Gene Testing for Resistance to Thyroid Hormone (RTH) | ✓ | Pending |
| TP53 (p53) Testing for Li Fraumeni Syndrome (LFS) | ✓ | ✓ |
| Von Hippel-Lindau Syndrome (VHL) | ✓ | Pending |
| X-linked Charcot-Marie-Tooth Neuropathy (CMTX) | ✓ | Pending |
| Y Chromosome Microdeletion Analysis | ✓ | ✓ |
* Indicates insufficient evidence for full report.
** Includes testing for the following disorders in individuals of Ashkenazi Jewish origin: Tay-Sachs disease, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia type C, glycogen storage disease type 1A, mucolipidosis type IV, alpha-1-antitrypsin deficiency, Bloom syndrome, neurosensory deafness, familial hyperinsulinism, Gaucher disease, maple syrup urine disease, adrenal hyperplasia and Niemann Pick disease types A and B.
