This product is only meant for customers who already
purchased a Sequencing Test
The 59 Gene Actionable Disorders Panel analyzes the 59 genes identified as medically actionable by the American College of Medical Genetics and Genomics (ACMG; Kalia et al., 2017).
These genes are medically actionable, with clinical management guidelines established for their associated conditions.
List of diseases screened:
- Familial adenomatous polyposis (FAP)
- Hereditary breast and ovarian cancer (HBOC)
- Li-Fraumeni syndrome (LFS)
- Peutz-Jeghers syndrome (PJS)
- Lynch syndrome – also known as hereditary non-polyposis colorectal cancer (HNPCC)
- MUTYH-associated polyposis (MAP)
- Von Hippel-Lindau syndrome (VHL)
- Multiple endocrine neoplasia type 1 (MEN1)
- Multiple endocrine neoplasia type 2 (MEN2)
- Familial medullary thyroid cancer
- PTEN hamartoma tumor syndrome
- Retinoblastoma
- Hereditary paraganglioma-pheochromocytoma syndrome (PGL/PCC)
- Tuberous sclerosis complex (TSC)
- WT1-related Wilms tumor
- Neurofibromatosis type 2 (NF2)
- Juvenile polyposis syndrome (JPS)
- Marfan syndrome
- Loeys-Dietz syndrome (LDS)
- Thoracic aortic aneurysms and/or dissections (TAAD)
- Ehlers-Danlos syndrome, vascular type
- Hypertrophic cardiomyopathy
- Dilated cardiomyopathy
- Catecholaminergic polymorphic ventricular tachycardia (CPVT)
- Arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Romano-Ward long-QT syndrome
- Brugada syndrome (BrS)
- Familial hypercholesterolemia (FH)
- Wilson disease
- Malignant hyperthermia susceptibility (MHS)
- Ornithine transcarbamylase (OTC) deficiency