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  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
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THAP1

Alias

DYT6

Associated disorders

The THAP1 gene is associated with autosomal dominant torsion dystonia 6 (DYT6) (MedGen UID: 236274).

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THAP1

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Invitae tests that include this gene:

In one study, THAP1 has been shown to account for approximately 25% of all cases of isolated (primary) dystonia among a European cohort with features of limb and cranial muscle involvement and affected speech. However, in a study with a large British cohort of patients with early-onset dystonia involving the craniocervical region or limbs, only approximately 2% had THAP1 pathogenic variants.

THAP1 encodes a THAP domain-containing protein involved with regulating endothelial cell proliferation and cell cycle progression.

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
THAP1 NM_018105.2