Molecular Genetics

Sample requirements, clinical details, and referral tests.

 

Molecular Genetic Samples

Whole blood collected in EDTA should be sent to the laboratory between 4 28 ̊C within 48 hours. Long term storage should be at 28°C. Extracted DNA samples should be sent to the laboratory between 428 ̊C.

 

Clinical details

Clinical details can be extremely important for clinical interpretation of a molecular genetic test.

For example, the clinical comments accompanying a cystic fibrosis screening report will vary depending on whether the patient is a potential gamete donor or a person exhibiting a cystic fibrosis phenotype.

It may also be crucial, where a mutation has already been shown to be segregating in a family, to be provided with information concerning the mutation and a family pedigree to ensure the correct analysis is performed and reliable risk figures calculated.

 

Referral tests

To meet the increasing range and complexity of genetic testing we have developed an excellent collaboration with other specialist laboratories.

Tests marked GENE in the A–Z test directory are sent to these laboratories within our network and have a fixed price.

GENE panel composition may change throughout the year to reflect new and improved developments. Turnaround times may be longer if follow-up studies are required.