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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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BCKDHA

Alias

BCKDE1A; BCKDH E1-alpha; MSU; MSUD1; OVD1A; alpha polypeptide; branched chain keto acid dehydrogenase E1

Associated disorders

The BCKDHA gene is associated with autosomal recessive maple syrup urine disease (MSUD) (MedGen UID: 6217).

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BCKDHA

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Invitae tests that include this gene:

Approximately 45% of MSUD cases are due to pathogenic variants in the BCKDHA gene (PMID: 20301495).

The BCKHDA gene encodes the E1-alpha subunit of the mitochondrial multienzyme branched chain alpha-ketoacid dehydrogenase (BCKHD) complex. The BCKHD complex is needed for the second step of catabolism of the branched chain amino acids leucine, isoleucine, and valine (PMID: 14567968).

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
BCKDHA NM_000709.3