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HelpTest Code LAB3145 Hemophilia A Mutation Evaluation
Additional Codes
Hem A Eval
Clinical System Name
Hemophilia A Mutation Evaluation
Synonyms
Bloodworks Northwest Hem A Mut; F8 genotyping; Factor 8 Genotyping; HemA genotyping
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender/EDTA
Preferred Vol: 10.0 mL
Minimum Vol: 3.0 mL
Alternative Specimen: DNA
Container(s): Sterile plastic tube
Preferred Vol: 10 µg of purified DNA at a concentration of at least 50 µg/ml
Minimum Vol: 5 µg of purified DNA at minimum concentration of 50 µg/ml
Alternative Specimen (e.g. salvia or buccal): Not accepted
Note: A BWNW Hemostasis Requisition must be completed and accompany specimen to lab. Send tubes to lab immediately.
Whole blood shipped at 2-8 C or ambient temperature is acceptable and should arrive in the lab within 48 hours.
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 8 C
Storage location: CPA refrigerator, Send Outs rack.
Off-site collection: Transport refrigerated.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room Temp |
2 d |
| Refrigerated | 2 d | |
| Frozen |
Unacceptable |
|
| Extracted DNA | Room Temp | 3-4 d |
| Refrigerated | 1 y | |
| Frozen | Indefinitely |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | 2-4 w |
Performing Laboratory
Bloodworks Northwest
Hemostasis Laboratory
921 Terry Ave
Seattle WA 98104
Phone: (206) 689-6594
Department
Department: Send Outs/Genetic
Phone: (206) 987-2563
Reference Range
None specified
Methodology
Method: Polymerase Chain Reaction (PCR) Based
Clinical Utility
Severe patients that are negative for the DNA Factor VIII inversion or patients that have moderate or mild hemophilia can be evaluated for mutations. Through our current screening methods, a mutation is found ~90-95% of the time. A reference for the DNA FVIII mutation database can be found here, and here.
Send Out Instructions
| Reference Test Name: |
DNA Hemophilia A Mutation Screen |
| Reference Lab Test Code: | 3250-02 |
| Instructions: | Send sample to BWNW via BWNW courier or Delivery Express. |