Molecular Genetics services
Please note that a sample of blood in EDTA is required for Molecular Genetic testing. DNA will be extracted and stored indefinitely from all samples received, unless we are specifically asked to dispose of the DNA sample following testing.
For a list of common referral types for the Regional Cytogenetics and Molecular Genetics Laboratories, please click here.
General reporting time guidelines*
- Predictive testing for known familial mutations - 14 calendar days
- Urgent testing affecting the outcome of a pregnancy, including prenatal diagnosis (PND) - 3 calendar days.
Please contact the laboratory when sending samples for urgent testing to discuss reporting times.
- Routine testing - 28-56 calendar days depending on the nature of the test and disorder (see below and disease-specific guidelines for further information).
* There are some exceptions to these guidelines. For further information see below for the specific guidelines for each disorder.
Other tests available
Many other tests are available at other laboratories, both in the UK and abroad. Blood samples for this purpose can be sent to this laboratory for DNA extraction and outsourcing to other labs. However, the payment for these tests is the responsibility of the referring clinician. For all outsourced samples, the laboratory will assume that the referring clinician has taken responsibility for the cost of these tests by completion of the referral card, and we will send the DNA for testing without prior confirmation with the clinician (unless referred from a GP). Please contact the laboratory to discuss the availability of testing or if you require further information.
Page last updated 16/04/2019. Please note that if printed, this information is only valid on the day of printing.