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HelpTest Code LAB2921 Cholestasis Genetic Panel
Clinical System Name
Cholestasis Genetic Panel
Description
Panel sequencing to analyze genetic causes of cholestasis performed at PreventionGenetics. Testing is offered at no-charge for qualifying U.S.-resident patients through a program sponsored by Mirum Pharmaceuticals.
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender Top/EDTA, Yellow/ACD
Preferred Vol: 5 mL
Minimum Vol: 3 mL (1 mL for small infants)
Specimen: DNA
Container(s): Sterile plastic tube
Preferred Vol: 10 µg of purified DNA at a concentration of at least 100 ng/μL
Minimum Vol: 5 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 - 4 C
Storage location: Do not spin. Deliver blood to the Send Outs refrigerator rack.
Off-site collection:
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 | Performed | TAT |
|---|---|---|
| N | Drawn daily | 3-4 w |
Performing Laboratory
PreventionGenetics
3800 South Business Park Avenue
Marshfield, WI 54449
Phone Number: (715) 387-0484
Department
Department: Send Outs/Genetic
Phone: (206) 987-2563
Methodology
Next-generation sequencing with CNV calling of exons for select genes
Reference Range
Interpretive report provided.
Send Out Instructions
| Reference Test Name: | Cholestasis Sponsored Testing Program |
| Reference Test Number: | 16229 |
| Instructions: |
Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery |
Clinical Utility
A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.