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Polycystic Kidney Disease (PKD) Genetic Panel

Justification

Mutations in PKD1 or PKD2 disrupt the production of the proteins polycystin-1 and polycystin-2 respectively. These proteins regulate several functions in the kidneys and liver, including the cells’ ability to form tubular structures as well as their growth and fluid secretion function. This disease is the most common potentially fatal inherited genetic disease and often leads to kidney failure requiring a kidney transplant.

STAT: < 48 hours (M-F)

NGS

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

DRAW KITS AVAILABLE

Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS -

General Information

METHODOLOGY NGS
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES Autosomal Dominant Polycystic Kidney Disease, ADPKD
DESCRIPTION This test sequences the exons plus 5bp of the flanking introns of the PKD1 and PKD2 genes. Mutations in the GANAB gene account for 0.3% of cases and are not included in this panel. Sanger sequencing may be used to confirm variants as needed.
LIMITATIONS This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.
NORMAL RANGE Interpretation: Negative
ASSOCIATED TESTING -
REFERENCES

1. Torres and Harris (2009) Autosomal dominant polycystic kidney disease: the last 3 years, Kidney International. DOI: https://doi.org/10.1038/ki.2009.128
2. Porath et al. (2016) Mutations in GANAB, Encoding the Glucosidase IIalpha Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet, 98(6), 1193-1207.
3. Carsten Bergmann (2017): Recent advances in the molecular diagnosis of polycystic kidney disease, Expert Review of Molecular Diagnostics, DOI: 10.1080/14737159.2017.1386099.
4. Iliuta et al (2017). Polycystic Kidney Disease without an Apparent Family History, J Am Soc Nephrol. doi: https://doi.org/10.1681/ASN.2016090938
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P1215
CPT CODE 81406, 81407
LOINC CODE 44421-6