Haemoglobinopathy genetic diagnosis, including mutation
identification, carrier and prenatal diagnosis, together with
clinical interpretation, is provided from the MDC in collaboration
with the Department of Haematology at the MRI, the Manchester
Sickle Cell and Thalassaemia Centre.
The service is offered to pre-conceptual and ante-natal couples
who are at risk of giving birth to children affected by a
clinically significant haemoglobinopathy, as identified through
phenotypic screening under the auspices of the NHS
Sickle Cell and Thalassaemia Screening Programme.
Our service has the ability to perform comprehensive genetic
analysis of the alpha and beta globin gene clusters by a
combination of the following methods:
- Gap-PCR for common alpha gene deletions
- DNA sequencing of the alpha and beta gene loci for detection of
point mutations and variants, with additional confirmatory tests as
appropriate, e.g. ARMS PCR
- MLPA analysis of the alpha and beta globin gene clusters for
rare or novel deletions/duplications
- HPFH investigation by a combination of HPFH specific gap PCR
tests, DNA sequencing and MLPA (tests applied as required)
This genetic diagnostic service for thalassaemia and haemoglobin
variants is centrally funded via the north-west of England NHS
specialist service commissioners and is available "free of charge"
to NHS health care providers in the north-west catchment area,
providing referrals meet GENETIC HAEMOGLOBINOPATHY TESTING
GUIDELINES - Referral guidance and associated paperwork can be
accessed via www.cmft.nhs.uk/haemoglobinopathy
Referrals will not be analysed until all appropriate referral
information, including consent for DNA analysis, has been received
by the laboratory.
For areas not covered by our funding, and where the clinical
service is managed by experts in these disorders, it will be at the
discretion of your local referral team to decide which cases merit
further investigation. These will be charged per investigation
depending on the level of analysis required. For details of pricing
please contact us to discuss individual referrals.