Associated disorders

The GNAL gene is associated with autosomal dominant dystonia 25 (DYT25) (MedGen UID: 767361).

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GNAL has been reported to account for as much as 15% of isolated dystonia (6 out of 39 affected families). However, in another study, only 3 GNAL-positive patients were found among a cohort of 760 patients with familial or sporadic isolated dystonia.

GNAL encodes guanine nucleotide-binding protein subunit alpha. GNAL is expressed in striatal neurons in the basal ganglia and has an obligatory role in the coupling of adenylyl cyclase responses to dopamine and adenosine.

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
GNAL NM_001142339.2, NM_182978.3