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Test Code LAB3146 Hemophilia B Mutation Evaluation

Important Note

A test requisition must be completed and accompany specimen to lab.

Additional Codes

Hem B Eval

Clinical System Name

Hemophilia B Mutation Evaluation

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 10.0 mL

Minimum Vol: 5.0 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

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

Synonyms

Bloodworks Northwest Hem B Mut; F9 genotyping; Factor IX gene analysis; Factor 9 Genotyping; HemB genotyping

Availability

STAT Performed TAT
N   5-10 d

 

Methodology

Method: PCR + Sequencing

Sequencing is performed for exons 1-8 and the 3′ ut region. Confirmation is performed one of two ways. If the mutation creates/removes a restriction enzyme digestion site, the testing will be performed by RFLP. If a restriction enzyme digestion site is not present, testing will be done by sequencing the exon in which the mutation is located

Reference Range

Interpretive report provided.

Special Instructions

Bloodworks NW

Test Requisition

Send Out Instructions

Reference Test Name:

DNA Hemophilia B Mutation Evaluation
Reference Lab Test Code: 3250-10
Instructions: Send sample to BWNW via BWNW courier or Delivery Express.