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Test Code D0401
Test Summary

This test analyzes 1 variant of the BCKDHA gene

Turn-Around-Time (TAT)* 10  - 12 days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
Commercial Insurance
CPT Codes** 81405 (x2), 81406 (x2)
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, 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 test detects the Y438N (formerly known as Y393N) variant of the BCKDHA gene associated with maple syrup urine disease, type Ia.

  • Individuals with symptoms of distinctive urine odor, poor feeding, vomiting, lethargy, abnormal movements, developmental delay, seizures, coma, and early death
  • Individuals with a family history of maple syrup urine disease type Ia

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).

Dried Blood Spots (Preferred sample type)
Collection Container(s):

Dried blood spot card

Collection:

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

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
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.

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