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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T012
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL) | Buccal Swabs

Billing

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

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)