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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T382
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

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

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