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Test Code LAB3147 Hemophilia/VWD Mutation Genotyping

Important Note

A Test Requisition must be completed and accompany specimen to lab.

Additional Codes

Hemoph/VWD Gene

Clinical System Name

Hemophilia/VWD Mutation Genotyping

Synonyms

Hemophilia carrier testing

Description

If the specific mutation is known, a family member may have the inheritance pattern of the mutation determined. This is most useful to assist in prenatal genetics and/or genetic counseling.

 

Mutation analysis 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.

Sample Requirements

Preferred 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: 15 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.

 

Note: Send daily with the BWNW courier. Sample must be received by BWNW within 48 hours of collection.

 

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   5 - 10 d

 

Performing Laboratory

Bloodworks Northwest

Hemostasis Laboratory
921 Terry Ave
Seattle WA 98104


Phone: (206) 689-6594

Department

Department: Send Outs/Genetics

Phone Number: (206) 987-2563

Reference Ranges

Interpretive report provided.

Methodology

Method: Mutation analysis 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.

Analytical Volume: 5.0 mL Whole Blood

Limitations:

Send Out Instructions

Reference Test Name: Genotype for known Hemophilia/VWD mutation
Reference Lab Test Code: 3250-11
Instructions: Send daily with the BWNW courier. Sample must be received by BWNW within 48 hours of collection.