Fatty Acid Oxidation Disorders

Tests Available

Forms and Documents

Test Details

ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HMGCL, HMGCS2, SLC22A5, SLC25A20
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial fatty acid oxidation disorder
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.

Ordering

T382
4 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81404x2; 81405x2; 81406x2
Yes
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. Houten, S. and Wanders, R. (2010) J Inherit Metab Dis 33:469-477
  2. Lindner, M., et al., (2010) J Inherit Metab Dis 33:521-526
  3. Wanders et al., (2010) J Inherit Metab Dis 33:479-494
  4. Spiekerkoetter, U. and Mayatepek, E., (2010) J Inherit Metab Dis 33:467-468
  5. Bennett S.(2004) Pharmacogenomics 5:433-8