ACADSB (M389V) Variant Analysis

Forms and Documents

Test Details

  • Confirmation of biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

529
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

81479x1
No
Yes
  • 796.6 Abnormal findings on neonatal screening
* For price inquiries please email zebras@genedx.com

References

  1. Alfardan et al., (2010) Mol Genet Metab 100:333-338
  2. Korman, (2006) Mol Genet Metab 89:289-299
  3. Sass et al., (2008) Mol Genet Metab 93:30-35
  4. Matern et al., (2003) Pediatrics 112:74-78
  5. Korman et al., (2005) Clin Chem 51:610-617
  6. Andresen et al., (2000) Am J Hum Genet 67:1095-1103
  7. Gibson et al., (2000) Pediatr Res 47:830-3