Hypertrophic Cardiomyopathy (HCM) Panel

New York
Approved

Genes

ACTC1, ACTN2, ALPK3, CAV3, CSRP3, FHL1, FLNC, GAA, GLA, JPH2, LAMP2, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, PLN, PRKAG2, RAF1, RIT1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL

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

Test Code

J553

CPT Codes*

81439x1

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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

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