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    10–21 calendar days (14 days on average)
  • Preferred specimen:
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  • Alternate specimens:
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PNKD

Alias

BRP17; DYT8; FKSG19; FPD1; KIPP1184; MR-1; MR1; PDC; PKND1; TAHCCP2

Associated disorders

The PNKD gene is associated with autosomal dominant familial paroxysmal nonkinesigenic dyskinesia (PNKD) (MedGen UID: 401504).

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PNKD

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Invitae tests that include this gene:

PNKD (MR1) is probably the only causative gene for paroxysmal nonkinesigenic dyskinesia (dystonia 8) when strict criteria for age at onset and ability to precipitate attacks with caffeine and alcohol are applied. However, test sensitivities in two cohorts were found to be 15% and 57%.

Researchers have not determined the role of the PNKD gene (frequently called the MR1 gene) in the human body. This gene is highly active (expressed) in the brain, which suggests that it plays an important role in normal brain function. The protein produced from the PNKD gene is similar to another protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research has demonstrated that this chemical is toxic to nerve cells (neurons). The PNKD protein is expected to perform a function similar to this known protein.

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
PNKD NM_015488.4