VLCAD Genetic Testing
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About the Disorder | Indication | Specimen l Testing Methodology l Turnaround Time l Billing l CPT Codes l Shipping l Results l Contact Us
About the Disorder
Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency secondary to ACADVL mutations is a disorder of fatty acid (lipid) metabolism with an incidence of 1 in 40,000 to 1 in 120,000 births. This enzyme deficiency results in the inability to break down long chain (12 to 18 carbon molecules) fatty acids for energy utilization. VLCAD deficiency may present in the first two years of life after illness or fasting. This inability to break down long chain lipids as an energy source during times of stress can result in low blood sugar levels, lethargy, muscle weakness, arrhythmia, enlarged heart, and liver disease especially in infants often leading to death. Older children or adults may present with intermittent rhabdomyolysis.
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Indications
- Cardiomyopathy, pericardial effusion and / or arrhythmia
- Hypoglycemia
- Rhabdomyolysis / skeletal myopathy
- Abnormal newborn screen suggesting VLCAD deficiency
- Abnormal acylcarnitine profile consistent with VLCAD deficiency
- Presymptomatic testing of at-risk siblings
- Prenatal diagnosis
- Carrier testing in relative of a patient with VLCAD deficiency
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Specimen
At least 3 mls of whole blood in purple top (EDTA) tube. Label tube with patient's name, birth date, and date of collection. Phlebotomist must initial tube to verify patient's identity.
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Testing Methodology
PCR-based sequencing of all 20 exons and exon/intron boundaries of the ACADVL gene.
Test Sensitivity and Specificity
PCR-based sequencing of all 20 exons and exon / intron boundaries of the ACADVL gene detects >95% of patients with VLCAD deficiency. The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Multiple exon deletions and insertions may not be identified by this methodology. ACADVL is the only gene associated with VLCAD deficiency.
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Turnaround Time
3-4 weeks
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Billing
We offer the following payment options:
- institutional billing
- commercial insurance billing
- Medicaid billing
- prepayment by check or credit card
Please call 1-866-450-4198 to speak with one of our billing specialists regarding current pricing, insurance preauthorization or any other billing questions.
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CPT Codes
- ACADVL: 83890, 83898(x12), 83894(x12), 83891(x12), 83904(x24), 83912
- Family specific analysis: 83890, 83898, 83894, 83891, 83904, 83912
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Shipping Instructions
Please enclose test requisition and audiogram with sample. All information must be completed before sample can be processed. Place samples in Styrofoam mailer and ship at room temperature by overnight Federal Express to arrive Monday through Friday.
Ship to
Cytogenetics and Molecular Genetics Laboratories
3333 Burnet Avenue NRB 1042
Cincinnati, OH 45229
513-636-4474
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Results
Each test report includes a detailed interpretation of the genetic findings, the clinical significance of the result, and specific recommendations for clinical management and additional testing, if warranted. Results will be reported to the referring physician or health care provider as specified on the test requisition form.
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Contact Us
For additional inquiries, contact us:
Phone 513-636-4474
Fax 513-636-4373
Email moleculargenetics@cchmc.org
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