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Genetics Lab

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Medium Chain Acyl-CoA Dehydrogenase (MCAD) Sequencing Analysis

Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is an inherited disorder of fatty acid metabolism caused by mutations in the MCAD gene. Individuals with MCAD are at risk for hypoglycemia during times of illness or prolonged fasting. Diagnosis is made using blood acylcarnitine profile, urine organic acids and mutation analysis. MCAD deficiency is estimated to affected 1/10 000 – 1/15 000 individuals and is included in the Washington State newborn screening program.

This test will identify >97% of sequence variants in the coding region and splice junctions. Large deletions, duplication or mutations in the promoter region cannot be detected by this analysis.

Test Name: MCAD sequencing analysis
Test Code:
MCADSEQ
Test Description:
DNA sequencing of all 12 exons and flanking regions of the MCAD gene.
Synonyms:
Fatty acid oxidation disorder
Indication:
This test is used to provide additional information regarding diagnosed patients or as a secondary confirmation of diagnosis. Sequencing can also be used for carrier testing.
Related Tests: Organic Acid Analysis, Urine  
For confirmation of newborn screening results, evaluating patients with episodes of lethary or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management.

Acylcarnitine Profile, Blood  
For confirmation of newborn screening results, evaluating patients with episodes of lethary or vomiting suggestive of a metabolic disorder and for follow-up of known patients for assessment of management.

Clinical Links: MCAD GeneReview
Availability:
Mon - Fri
Turnaround Time:
2-3 weeks
Methodology:
PCR and sequencing
Reference Range:
Interpretive report provided
Requisition:
Consent Form:
Sample Requirements: Type
Whole blood: 1-3 mL in EDTA (purple top) or ACD (yellow top).
5-10ug extracted DNA

Processing
Do not spin. Refrigerate blood samples which will not be immediately shipped.

Shipping
Room temperature via overnight shipping.
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions