MCAD Genetic Testing
Download a Test Requisition Form
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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
Medium acyl-CoA dehydrogenase (MCAD) deficiency secondary to ACADM mutations is a disorder of fatty acid (lipid) metabolism with an incidence of approximately 1 in 10,000 births. This enzyme deficiency results in the inability to break down medium chain (6-12 carbon molecules) fatty acids for energy utilization. MCAD deficiency often presents in the first two years of life after illness or fasting. This inability to break down medium chain lipids as an energy source during times of stress can result in a low blood sugar level, vomiting, lethargy, coma, and death. Later presentation even into adulthood is possible.
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Indications
- Unexplained low blood sugars and metabolic acidosis in an infant
- Abnormal newborn screen suggesting MCAD deficiency
- Abnormal acylcarnitine profile consistent with MCAD deficiency
- Abnormal organic acids profile consistent with MCAD deficiency
- Presymptomatic testing of at-risk siblings
- Prenatal diagnosis of at-risk pregnancies
- Carrier testing in relative of a patient with MCAD 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 12 exons and exon/intron boundaries of the ACADM gene.
Test Sensitivity and Specificity
PCR-based sequencing of all 12 exons and exon/intron boundaries of the ACADM gene detects >95% of patients with MCAD 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. ACADM is the only gene associated with MCAD 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
- ACADM: 83890, 83898(x11), 83894(x11), 83891(x11), 83904(x22), 83912
- Family specific analysis: 83890, 83898, 83894, 83891, 83904, 83912
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Shipping Instructions
Please enclose test requisition 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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