Test Background IGH mutations are identified using PCR and direct sequencing methodologies. Primers are used to identify a clonal B lymphoid cell population.
Clinical Indications Hypermutation of IGH provides information on prognostic indicators for patients with chronic lymphocytic leukemia (CLL). Hypermutation of the IGH gene is strongly predictive of a good prognosis, while lack of mutation predicts a poor prognosis.
Sample Required Blood or bone marrow in EDTA (lavender top) within 72 hours of collection
Sample Volume 10-20 mL or 1-2 mL bone marrow
Turnaround Time 10 working days
Notes At times, it may be necessary to refer work to other laboratories or consultants. This requirement is assessed on a case-by-case basis. Referral centres are selected based on the EQA schemes in which they participate, any reported EQA exceptions, average turnaround times and accreditation status. There are occasions where a centre without accreditation status is used; this is because it is a national referral centre and, on this basis, is deemed expert in this field.
When cases require a specialist second opinion, they are referred by our pathologist to another pathologist, in line with the West London Cancer Network guidelines.