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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
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TUBB4A

Alias

DYT4; TUBB4; beta-5

Associated disorders

The TUBB4A gene is associated with a spectrum of autosomal dominant conditions including dystonia 4 (DYT4) (OMIM:128101) and hypomyelinating leukodystrophy 6 (HLD6) (MedGen UID: 436642).

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TUBB4A

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Invitae tests that include this gene:

TUBB4A dystonia has been described in a single large family of English origin. TUBB4A is a rare cause of dystonia, and the percentage of dystonia attributed to pathogenic variants identified in TUBB4A is unknown.

TUBB4A encodes beta tubulin 4A, a component of microtubules, which are an important component of the cytoskeleton.

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
TUBB4A NM_006087.3