Home
HelpTest Code LAB1822 CFTR Single Gene Analysis
Additional Codes
CFTR Gene
Clinical System Name
CFTR Single Gene Analysis
Description
Sequencing of CFTR to analyze genetic causes of cystic fibrosis performed at PreventionGenetics.
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender Top/EDTA, Yellow/ACD
Preferred Vol: 5.0 mL
Minimum Vol: 3.0 mL (1.0 mL for small infants)
Alternative Specimen: DNA
Container(s): Sterile Plastic Tube
Preferred Vol: 5 µg -10 µg of purified DNA at a concentration of at least 100 µg/ml
Alternative Specimen (e.g. saliva or buccal): Alternate Specimen Collection Kits for Genetic Testing
Processing Instructions
Reject due to: Frozen samples are unacceptable. Hemolysis is unacceptable.
Spin: N
Aliquot: N
Temp: 2 - 8 C
Storage Location: Do not spin. Refrigerate whole blood in CPA refrigerator, Send Outs rack.
Off-site Collection: Do not spin. Send refrigerated.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room temp |
3 d |
| Refrigerated | 7 d | |
| Frozen |
Unacceptable |
|
| Extracted DNA | Room temp | 3-4 d |
| Refrigerated | 1 y | |
| Frozen | Indefinitely |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Varies | 2 - 3 w |
Performing Laboratory
PreventionGenetics
3800 South Business Park Avenue
Marshfield, WI 54449
Phone Number: (715) 387-0484
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
Next-generation sequencing with CNV calling of exons for CFTR
Reference Range
Interpretive report provided.
Clinical Utility
A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.
Send Out Instructions
| Reference Test Name: |
Cystic Fibrosis and CF-Related Disorders via the CFTR Gene |
| Reference Lab Test Code: | 3035 |
| Instructions: | Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted. |