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Maple Syrup Urine Disease Mutation Panel

Omics test Model
Test Code D0401
Test Summary

This assays tests for 1 variant of the BCKDHA gene, which is associated with maple syrup urine disease, type Ia.

Turn Around Time 10 - 12 days
Acceptable Sample Types Dried Blood Spots
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
Self (patient) Price $148.50
Institutional Price $148.50
CPT Codes** 81400(x1)
*TAT starts after the sample and all required sample information is received, or after the benefits investigation is complete if requested for commercial insurance billing.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
This test is not available in your region United States, please select your nearest laboratory to request more information.
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Test Description

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

Condition Description

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.

Test Methods and Limitations

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).

Detailed Sample Requirements

Dried Blood Spots (Preferred Sample)
Test Details Page
Collection Container(s) Dried blood spot card

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample Condition Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping Follow kit instructions. Double bag and ship overnight at ambient temperature.