Metabolic Myopathy

Tests Available

Forms and Documents

Test Details

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
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a metabolic myopathy
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.

Ordering

T012
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x3; 81405x2; 81406x2; 81407x1; 81408x1
No
Yes
For price inquiries please email zebras@genedx.com

*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.

References

  1. Berardo et al. (2010) Curr Neurol Neurosci Rep 10 (2):118-26 (PMID: 20425236)
  2. Wanders et al. (2010) Journal Of Inherited Metabolic Disease 33 (5):479-94 (PMID: 20490924)