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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMUTA 20
Method

Coding regions and flanking intronic sequences of all 12 exons of the ACADM gene are amplified by PCR and analysed by automated fluorescent bi-directional DNA sequencing.

Diagnostic Use / Indications

MCAD deficiency is inherited in an autosomal recessive manner and only results from mutations in the ACADM gene. MCAD deficiency is the most common inherited defect in beta oxidation of saturated fatty acids. Most patients present between 3-15 months of age, with hypoketotic hypoglycaemia (usually triggered by an intercurrent illness or period of fasting) which may be lethal. However, MCAD deficiency presentation may be highly variable with several case reports from both neonates and adults. Importantly, a large number of individuals who have inherited two disease-causing mutations have been found to be asymptomatic.  The pathogenic c.985A>G variant (p.Lys329Glu) accounts for some 50% of homozygosity and 40% of heterozygosity respectively.

Constituent TestsGenomic DNA Extraction ;
External Price$196.06(Exclusive of GST)
  

Specimen Collection

 
Patient Specimen4.0mL EDTA,
Paediatric Specimen0.5 mL - 1 mL EDTA blood
Sample Delivery to LabSame day or overnight courier, ambient temperature
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am-5pm Monday to Friday
Turnaround TimeWithin 4 weeks
Additional Information
  1. This genetic test requires nucleated cells. Please do not centrifuge or freeze the EDTA blood tube.
  2. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
Delphic Number Test Number7312

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