JAK2 mutation detection (Polycythaemia vera)


Description

V617F only. Qualitiative allelic discrimination with a sensitvity of approximately 10%


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test. Download the referral form >


Additional information

Myeloproliferative Disorders (MPD) are clonal disorders of haematopoietic progenitors. The G1849T base substitution occurs in exon 14 of the tyrosine kinase JAK2 gene and results in the V617F mutation. This mutation has been observed in up to 98% of patients with PV aqnd is a valuable genetic marker on BCR-ABL negative disorders.


Sending address

Paediatric Malignancy Unit Great Ormond Street Hospital for Sick Children Level 2, Camelia Botnar Laboratories Great Ormond Street London WC1N 3JH

Laboratory service

Specialist Integrated Haematology and Malignancy Diagnostic Service- Acquired Genomics


Sample requirements

5 mls EDTA peripheral blood or bone marrow


Reference range

Not applicable


Turnaround time

7-10 working days


Disease / group

Polycythaemia vera


Cost

Upon request


Call in advance?

Please call in advance to discuss requirements


Specialist Integrated Haematology and Malignancy Diagnostic Service- Acquired Genomics (SIHMDS-AG)

Specialist Integrated Haematology and Malignancy Diagnostic Service- Acquired Genomics (SIHMDS-AG) is a laboratory providing a wide range of molecular genetic and cytogenetic diagnostic tests.

© 2011 Great Ormond Street Hospital for Children NHS Trust