• 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
  • Request a sample kit



HSAN2; HSN2; KDP; PPP1R167; PRKWNK1; PSK; WNK1 (previously named HSN2; a gene symbol that is now retired).; p65

Associated disorders

The WNK1 gene is associated with autosomal recessive hereditary autonomic and sensory neuropathy type 2A (HSAN2A) (MedGen UID: 416701) and autosomal dominant pseudohypoaldosteronism type 2C (PHA2C) (MedGen UID: 327089).

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Invitae tests that include this gene:

Pathogenic variants in WNK1 account for 2% of patients with hereditary sensory and autonomic neuropathy.

The WNK1 gene encodes multiple isoforms of the Lysine-deficient protein kinase-1 protein. These proteins are important in several functions in the body, including blood pressure regulation and pain sensation. One isoform, WNK1/HSN2, which is encoded by a single exon found within intron 8 of the WNK1 gene, is expressed only in sensory neurons. The function of WNK1/HSN2 is unknown, however, a role in development or maintenance of peripheral neurons has been suggested.

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
WNK1 NM_018979.3; NM_213655.4