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Custom HCM Panel


Conditions

  • Danon Disease
  • Fabry Disease
  • Hypertrophic Cardiomyopathy (HCM)
  • Noonan Syndrome
  • Pompe Disease
  • Transthyretin Amyloidosis
  • Wolff-Parkinson-White Syndrome

Clinical Utility

  • Confirmation of clinical diagnosis in symptomatic patients
  • Genetic counseling and risk assessment of asymptomatic family members of a proband with HCM
  • Differentiation of hereditary HCM associated with mutations in sarcomeric genes from phenocopies (i.e. Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis)

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Important Information

Customizable Cardiology Panel

Test Code

J553C

CPT Codes*

81405x1, 81406x1, 81407x2

ABN Required

No

Turnaround Time**

4 weeks

Preferred Specimen

2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.