Horizon with Fetal Focus Screening Options
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| NAME | X-LINKED | RECOMMENDATIONS | HORIZON PANEL OPTIONS |
|---|---|---|---|
Alpha-Thalassemia (HBA1/2) | No | ACMG ACOG | Horizon 14 Horizon Basic Horizon 27 Horizon 106 Horizon 274 |
Beta-Hemoglobinopathy/Sickle Cell Disease (HBB) | No | ACMG ACOG | Horizon 14 Horizon Basic Horizon 27 Horizon 106 Horizon 274 |
Canavan Disease (ASPA) | No | ACMG ACOG | Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Carnitine Palmitoyltransferase II Deficiency (CPT2) | No | ACMG | Horizon 106 Horizon 274 |
Cystic Fibrosis (CFTR) | No | ACMG ACOG | Horizon 4 Horizon Basic Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Duchenne Muscular Dystrophy (DMD) | Yes | ACMG | Horizon 4 Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Familial Dysautonomia (IKBKAP/ELP1) | No | ACMG ACOG | Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Familial Mediterranean Fever (MEFV) | No | Horizon 106 Horizon 274 | |
Fragile X syndome (FMR1) | Yes | ACMG ACOG | Horizon 4 Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Galactosemia (GALT) | No | ACMG | Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Gaucher Disease (GBA) | No | ACMG | Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Glycogen Storage Disease, Type 2 (Pompe Disease) (GAA) | No | ACMG | Horizon 106 Horizon 274 |
Krabbe Disease (GALC) | No | Horizon 274 | |
Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) | No | ACMG | Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Phenylketonuria (PAH) | No | ACMG | Horizon 106 Horizon 274 |
Polycystic Kidney Disease, Autosomal Recessive (PKHD1) | No | ACMG | Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Smith-Lemli-Opitz Syndrome (DHCR7) | No | ACMG ACOG | Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Spinal Muscular Atrophy (SMN1) | No | ACMG ACOG | Horizon 4 Horizon Basic Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Tay-Sachs Disease (HEXA) | No | ACMG ACOG | Horizon 14 Horizon 27 Horizon 106 Horizon 274 |
Wilson Disease (ATP7B) | No | ACMG | Horizon 106 Horizon 274 |