Gx™ Physical Exam Actionable Gene Testing

The Physical Exam Actionable Gene Testing examines 58 genes associated with common diseases and drug metabolism.

Actionable and Highly Penetrant Genetic Disorders and Pharmacogenetics Panel measures risk of developing a disease and identifies an individual’s unique drug metabolism.

The American College of Medical Genetics and Genomics (ACMG) makes genetic testing recommendations in the “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.” This report lists well-understood genetic variants for which the possibility exists of medical intervention with high benefit to those carrying the variants, if they are detected presymptomatically.

Based on ACMG recommendations, Otogenetics generated this gene panel, which targets 58 genes associated with various cancers (such as breast cancer), various common syndromes, heart diseases, endocrine diseases and drug metabolism, as known as pharmacogenomic (PGx) pathways, aiding in the selection of optimal pharmaceutical treatment.

Disease List:

  • Breast and Ovarian Cancer
  • Li-Fraumeni Syndrome
  • Peutz-Jeghers Syndrome
  • Lynch Syndrome
  • MYH-Associated Polyposis
  • Von Hippel Lindau Syndrome
  • Multiple Endocrine Neoplasia (Types 1 and 2)
  • Familial Medullary Thyroid Cancer
  • Familial Adenomatous Polyposis
  • Hereditary Diffuse Gastric Cancer
  • Melanoma-Pancreatic Cancer
  • Cowden Syndrome
  • Juvenile Polyposis Syndrome
  • Nevoid Basal Cell Carcinoma
  • Ehler-Danlos Syndrome
  • Cardiomyopathy
  • Familial Hypercholesterolemia
  • Malignant Hyperthermia

Pharmacogenomic List:

  • Beta Blockers
  • Clopidogrel
  • Warfarin
  • Simvastatin
  • Statins
  • Fluorouracil
  • Irinotecan
  • Thiopurines
  • Floxacillin
  • Succinylcholine
  • Carbamazepine
  • Aminoglycoside
  • Factor V Leiden
  • Folic Acid Metaboloism Disorder