Medium Chain Acyl ColA Dehydrogenase (MCAD) deficiency

Order Code: 219584

CPT Codes:  81403, 81406*, G0452

*81403 (sequencing of exon 11) will be performed first; if two mutations are not identified in exon 11, the remaining exons will be sequenced and the test will instead be billed as 81406

Indication: Carrier Screening; Clinical Diagnosis; Prenatal Diagnosis

Required Patient Information: Personal and Family History of clinical symptoms and/or previous test results (if any); For prenatal testing: LMP date or gestational age at the time of sample collection

Turn Around Time: 21 days

Specimen type: Whole Blood, Amniotic Fluid, Chorionic Villi, Blood spot

Methodology: Bidirectional sequencing analysis for exon 11, which harbors K329E, will be performed first; if two copies of the K329E or one copy of K329E and another previously reported mutation in exon 11 are identified, results will be reported with no further testing. If no mutation or only one mutation in exon 11 is identified, bidirectional sequencing analysis of all 12 exons and the immediately flanking intronic sequences will be used to identify mutations in ACADM gene.

Other Requirements: A maternal blood sample is required for all prenatal specimens.