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.
Genetics - Molecular Pathology
Deliver same day or overnight courier, ambient temperature
This genetic test requires nucleated cells. Please do not centrifuge or freeze the EDTA blood tube.
Ambient (8 - 24 degrees Celsius)
Please do not centrifuge or freeze the EDTA blood tube.
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.
$213.17 (Exclusive of GST)
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.
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