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Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel

Clinical System Name

Miscellaneous Genetic Test

Synonyms

PKD1

PKD2

ADPKD

ARPKD

PKHD1

Description

Panel to analyze genetic causes of polycystic kidney disease at PreventionGenetics.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 5 mL

Minimum Vol: 3 mL (1 mL for infants)

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 5 µg -10 µg of purified DNA at a concentration of at least 100 ng/μL

 

Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 2-3 weeks

 

Performing Laboratory

PreventionGenetics

Department: PreventionGenetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484

Department

Send Outs/Genetic

206-987-2563

Methodology

Next-generation sequencing with CNV calling of exons for select genes

Reference Range

Interpretive report is provided.

Clinical Utility

A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.

Resources

Reference Lab Test Page

GeneReviews: ADPKD; ARPKD

Send Out Instructions

Reference Test Name:

Autosomal Dominant and Recessive Polycystic Kidney Disease (ADPKD and ARPKD) Panel

Reference Test Number: 10189
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery.