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.
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. |