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 Details

ACADVL
  • Diagnostic confirmation
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing Reflex to Exon Array CGH

Ordering

270
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

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)
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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