Polycystic Kidney Disease, Autosomal Recessive

Test Description:

Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the gene PKHD1. The classic form presents in the neonatal period with enlarged kidneys causing renal disease and hypertension at least half of these children will progress to end-stage renal disease by age 10. In severe cases, oligohydramnios results in pulmonary hypoplasia of newborns and causes respiratory insufficiency, which may result in death in the first year of life. Hepatobiliary disease is present in more than half of affected infants and results in significant morbidity. The incidence of ARPKD in the general population is approximately 1 in 40,000, and many different mutations of the PKHD1 gene have been identified. All affected Ashkenazi Jewish patients tested at Mt. Sinai were found to be homozygous for the c.3761_3762delCCinsG mutation. Carrier screening in the Ashkenazi Jewish population identified a carrier frequency of 1 in 106. Testing for this mutation is expected to identify over 95% of mutations in the PKHD1 gene in the Ashkenazi Jewish population.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


1. Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, Kubly V, Cunningham JM, Bacallao R, Ishibashi M, Milliner DS, Torres VE, Harris PC. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002 Mar30(3):259-69.

Specimen Requirements


Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: two confluent T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Ship at room temperature

Turnaround Time:

10 – 14 days

CPT Codes:


Forms and Brochures

Carrier Screening Requisition and Consent [PDF]
Expanded Ashkenazi Jewish Carrier Screening Brochure [PDF]
Ashkenazi Jewish Carrier Screening Panel