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Test Code MCAD KNOWN MCAD Known Mutation

Clinical System Name

MCAD Known Mutation Analysis



Fatty Acid Oxidation Disorder

Medium Chain Acyl-CoA Dehydrogenase Deficiency


This test involves targeted analysis for mutations previously identified through clinical testing of a family member or  research testing of the individual.  It can be used for carrier testing at-risk relatives and prenatal testing for confirmed carriers. Mutations must be known. For full gene sequencing please see MCAD Sequencing.



Sample Requirements

Specimen: Whole blood, cord blood

Container(s): Lavender/EDTA, Yellow/ACD A or B

Preferred Vol: 3 mL

Minimum Vol: 1 mL


Note: Heparin samples (Green tops) are unacceptable.


Specimen: Extracted DNA

Minimum: 10µg

Note: DNA concentration minimum 50 µg/mL; 260/280 ratio 1.70-2.00


Specimen: Cultured cells

Acceptable:  Fibroblasts

Container(s): T-25 flasks

Preferred Vol: 2 flasks

Processing Instructions

Reject due to: Heparin

Spin: No

Aliquot: No

Temp: Refrigerate

Storage location: Molecular Genetics box in CPA refrigerator #2


Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.


Specimen Type Temperature Time
Cultured cells Room temp 3 days
Whole blood, extracted DNA Room temp 3-5 days
Whole blood, extracted DNA Refrigerated 7 days
Extracted DNA Frozen ok


Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.


STAT Performed TAT
Contact lab Monday - Friday 2-3 weeks


Performing Laboratory

Seattle Children's Laboratory


Department:  Molecular Genetics Laboratory

Phone: 206-987-3872


Lab Client Services: 206-987-2617


Lab Genetic Counselors:

Reference Range

Interpretive report will be provided


Method: PCR + Sequencing


Limitations: This test is for targeted known mutation analysis only.  Mutations must be known

CPT Codes

81479x1 (updated 4/28/16 by jconta)

Special Instructions

Please provide copies of proband reports when requesting known mutation analysis for cases NOT performed by Seattle Children's Lab.


Links to: MCAD GeneReview


Molecular Genetics

Clinical Utility

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.