Associated disorders

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

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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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

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