Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is an autosomal recessive, rare disorder of fatty acid oxidation. Presentation is variable, and has been classified into three forms: a severe neonatal form with high mortality and hypertrophic cardiomyopathy, hepatomegaly and hypotonia, a milder childhood form with hypoketotic hypoglycemia, hepatomegaly and hypotonia, and an adult-onset form with isolated skeletal muscle involvement, leading to muscle pain, rhabdomyolysis or myoglobinuria.

Tests Available

Forms and Documents

Test Info Sheet Test Requisition Form

Test Details

  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies

Ordering

270
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81406x1
No
Yes
  • 277.85 Disorders of fatty acid oxidation, Carnitine palmitoyltransferase deficiencies, Glutaric aciduria type II, Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD), Long chain/very long chain acyl CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency (MCAD), Short chain acyl CoA dehydrogenase deficiency (SCAD)
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. Gregersen, N. et al, (2001) Hum Mutat 18:169-189
  2. Mathur, A. et al, (1999) Circulation 99:1337-1343
  3. Andresen, B.S. et al, (1999) Am J Hum Genet 64:479-494
  4. Liebig, M. et al, (2006) Pediatrics 118:1065-1069