1. Roe and Ding. Mitochondrial Fatty Acid Oxidation Disorders, in: C.R. Scriver, A.L. Beaudet, W. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, 2001, pp. 2305-2308.
2. Andresen B, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-coA dehydrogenase deficiency. Am J Hum Genet 64:479-494.
3. Vianey-Saban C, Divry P, Brivet M, Nada M, Zabot MT, Mathieu M, Roe C (1998) Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269:43-62.
4. Ogilvie I, Poufarzam M, Jackson S, Stockdale C, Bartlett K, Turnbull DM (1994) Very-long-chain acyl-CoA dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 44:467-473
5. Pons et al. Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr Neurol 2000, 22(2):98-105.
6. Andresen et al. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, identification in four patients of nine different mutations within the VLCAD gene. Hum Mol Genet 1996, 5:461-72.
7. Andresen et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 1999, 64:479-94.
8. Liebig et al. Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 2006, 118(3):1065-9.
9. Schulze et al. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics 2003, 111(6 Pt 1):1399-406.
- Confirmation of a clinical/biochemical diagnosis of VLCADD.
- Carrier testing in adults with a family history of VLCAD.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Results of molecular analysis must be interpreted in the context of the patient's clinical and/or biochemical phenotype.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Urine Organic Acids (OA) and Plasma Acylcarnitine Profile (AR) are used in the diagnosis of a patient with VLCADD.
- Sequence analysis of the ACADVL gene is available and is required before deletion/duplication analysis.
- Prenatal testing is available to couples who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.