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Metabolic Myopathy Panel

New York
Approved


Genes

ACAD9, ACADM, ACADVL, AGL, ALDOA, CPT2, ETFA, ETFB, ETFDH, FKRP, GAA, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PYGM, RYR1, SLC22A5, SLC25A20, SUCLA2, TANGO2, TK2

Conditions

  • Metabolic Myopathy

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a metabolic myopathy

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

T012

CPT Codes*

81404x2, 81405x2, 81406x2, 81407x1, 81408x1, 81479x3

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.