Test Directory

IGHV mutation status

Containers - Adult

RedCapTubeEDTAKE9ml.jpg
Red Cap Tube EDTA KE 9ml
Volume Range

5-10 ml peripheral blood or bone marrow specimen

Additive per Container

EDTA

Laboratory Site

WGH
Crewe Road South
Edinburgh
EH4 2XU
Telephone: 0131 537 1000

Transport arrangements

Specimens should ideally arrive within 24 hours of collection (maximum of 48 hours) and should be sent to the following address:

Western General Hospital

Haematology/Biochemistry Combined Reception

Immunophenotyping Laboratory

Crewe Road

Edinburgh

EH4 2XU​

 

See also Specimen transportation.​

Sample storage arrangements

Samples should be stored at room temperature. See specimen requirements.​
 

How to request

Please refer to our detailed requesting ​instructions.  The HMDS request form can be located here.​

HMDS request form PDF_v5.pdf

Availability

Monday - Friday 9am-5pm

Anticipated turnaround

Results should be expected within 15 working days.  See results.​​

Static information/disclaimer

This test has been accredited to ISO15189. 

However, part of the procedure now makes use of an automated pipetting system which has been separately validated, but is not currently accredited to ISO 15189. 

General additional information

This assay will ascertain the mutation status of the IGHV immunoglobulin locus in patients with chronic lymphocytic leukaemia. IGHV gene mutation status is determined by the percentage homology to the germline sequence.

Homology of ≥ 98% to germline is regarded as unmutated (U-CLL), whereas a homology of < 97% is regarded as mutated (M-CLL). Homology 97-97.9% is considered borderline and therefore should be interpreted with caution.

Patients with U-CLL have a less favourable outcome compared to patients with M-CLL.

Assessment the TP53 gene by sanger sequencing can also be performed.

For clinical advice on appropriate investigations and advice for the interpretation of test results, please contact us​.