DNA/ genetic testing

Referred to various external laboratories depending on investigation required.
 

Regional genetic testing is provided by South East Genomic Laboratory Hub.

See also:

Haemochromatosis genetics

Familial hypercholesterolaemia (genetics)

Cystic fibrosis genetics

Gilbert syndrome (genetic testing)

Wilson disease (genetic testing)

Alternative names, keywords

Genetics

Samples required

Generally EDTA blood samples are required - please check requirements on the request form.

The hub states that specimens will not be accepted by referral lab unless correctly labelled and accompanied by a fully completed request form. 

Please download the appropriate request form from the SE Genomics Hub.

If you are sending an electronic request form direct to one of the genetics provider labs, please note a paper copy is still required with the sample so that handling laboratories can process it correctly.

** Whole genome sequencing for new acute leukaemia is handled by Immunohaematology.

All genetic testing requires consent. It is the responsibility of the referring clinician to obtain appropriate consent from the patient for genetic testing. This should be saved in local patient records and does not need to be sent with the request form. The SE-GLH Record of Discussion form can be downloaded alongside the relevant request form.

Test information

The SE Genomic Laboratory Hub provides a centralised service for all genetic testing in the region. The National Genomic Test Directory has full information on current tests. Please refer to the document "Rare and inherited disease eligibility criteria" for information on each test and the situations when it can be requested.

Please contact the SE Genetic Hub directly with any queries at This email address is being protected from spambots. You need JavaScript enabled to view it..

Turnaround time

Highly variable depending on test. Our laboratory has no control over the time scale for the return of results. Results are reported direct to requesting clinician.

Enquiries

Biochemistry (Referrals)