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Genetics Lab

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MCAD Known Mutation 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.

Test Name: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Known Mutation
Test Code:
MCAD Known
Test Description:
Analysis of the MCAD gene for known familial mutations
Synonyms:
Fatty acid oxidation disorder
Indication:
This test is used for carrier, or diagnostic testing at-risk relatives or prenatal testing for known carrier parents. Mutations must be known.
Related Tests: MCAD sequencing analysis  
This test is used to provide additional information regarding diagnosed patients or as a secondary confirmation of diagnosis.

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:
Availability:
Mon-Fri
Turnaround Time:
1-2 weeks
Methodology:
PCR followed by Sequencing
Reference Range:
Interpretive report will be provided
Requisition:
Consent Form:
Sample Requirements: Type
Type Whole blood: 1-3 ml in EDTA (purple top) or ACD (yellow top) DNA: 5 micrograms extracted DNA

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

Shipping
Shipping Room temperature via overnight shipping.
Samples Received:
Monday-Friday 8am-5pm 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