Molecular Genetics

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

Samples

• Whole blood collected in EDTA should be sent to the laboratory at ambient temperature within 48 hours, and kept between 4–28 ̊C.
• Long term storage should be at 2–8°C.
• Extracted DNA samples should be sent to the laboratory between 4–28 ̊C.
• Samples for NIPT should be kept at room temperature and never placed in the fridge or freezer.