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)
Genetic diagnosis referrals should meet GENETIC HAEMOGLOBINOPATHY TESTING GUIDELINES – Referral guidance and associated paperwork can be accessed here.
Referrals will not be analysed until all appropriate referral information, including consent for DNA analysis, has been received by the laboratory.
Where the local 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.
(Last reviewed October 2018)