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Polycystic Kidney Disease (PKD1)


Autosomal dominant polycystic kidney disease (ADPKD) due to mutations in the PKD1 gene is a relatively common disease in humans (prevalence of 1/400 to 1/1000).  Greater than 860 pathogenic variants have been identified, and include missense, nonsense, indel, and frameshift type variants. The PKD1 gene encodes the protein polycystin-1, a protein expressed in the primary cilium.  Approximately 78-85% of ADPKD is believed to be due to mutations involving the PKD1 gene. Renal involvement is characterized by progressive extensive bilateral renal cystic change.  Approximately 50% of ADPKD patients will develop end-stage renal disease by age 60-years.  Clinical diagnosis is based on the presence of age-specific renal imaging (ultrasound or MRI) findings and an affected first-degree relative, or identification of a heterozygous pathogenic variant.

The PKD1 gene is located on chromosome 16 (16p33.3), and has 46 exons.  Six highly homologous pseudogenes (98 – 99% homology), caused by duplication of exons 1-32 during human evolution, are also located on chromosome 16, and make sequencing of the PKD1 gene a challenge.  The method developed at Arkana Laboratories to separate the PKD1 gene region from the highly homologous pseudogenes, provides a reliable strategy for downstream sequence analysis.

Reason for Testing:

Identification of disease-causing mutations involving the PKD1 gene.

Test Details:

Method: Next Generation Sequencing of patient DNA highly enriched for PKD1 gene using CRISPR/Cas9 and pulsed field gel electrophoresis (SAGE HLS-CAPTURE)

Turn Around Time:

Less than two months from receipt of specimen.

Acceptable specimens:

Peripheral blood: At least 2m ml in yellow top tube (provided by Arkana Laboratories) shipped overnight with cool pack.  

Samples must have two patient identifiers, preferably the patient’s name and date of birth.

Each sample must be accompanied by a requisition form with the declaration signed by the ordering provider and an informed consent document signed by the patient and provider.

Shipping Instructions:

Please call Arkana Laboratories to request a kit.

Contact Information:

Arkana Laboratories Molecular Division
10810 Executive Center Drive, Suite 100
Little Rock, AR 72211

Co-Director: Chris Larsen, MD
Co-Director: Jon D. Wilson, MD
Lab Manager: Marjorie Beggs, PhD