This test detects the p.Y438N variant (previously p.Y393N) in the BCKDHA gene.

Maple syrup urine disease type Ia is associated with the inability to break down the amino acids leucine, isoleucine, and valine. The age of onset is variable, and the symptoms include distinctive urine odor, poor feeding, vomiting, lethargy, abnormal movements, developmental delay, seizures, coma, and early death. A strict diet can manage this disease. The incidence of maple syrup urine disease type Ia is estimated to be ~ 1 in 185,000.

Gene analysis for the various targeted mutations is performed by polymerase chain reaction and melting curve analysis to detect the mutant and wild-type forms of the gene. Sequence-specific oligonucleotide probes are labeled with fluorescent dyes, which hybridize to their complementary sequence target in PCR products. The fluorescence resonance energy transfer (FRET) from one fluorophore to another adjacent fluorophore is measurable and is directly proportional to the amount of target DNA generated during PCR. Allele-specific melting curves are generated by slow thermal denaturing of the probe: template hybrid. Melting curves are generated by monitoring fluorescence throughout denaturation, and melting peaks are generated by plotting the inverse derivative of fluorescence versus temperature (−dF/dT).