Sending samples to genetics laboratory
Samples can be sent to the genetics laboratory via your local hospital/primary care blood pick up system.
- 2 – 4mls of blood in EDTA sent with DNA request
If relevant, please include the name of the affected or carrier relative on this referral form.
Please include an nhs.net or equivalent secure email on this form, as this is how the lab will send you the results.
Consent form
Record of discussions form to summarise clinical consent – Royal College of Physicians and Royal College of Pathologists 2019National genomics test directory
This is updated periodically and provides a list of genetic tests and indications for testing and defines eligible requesters.
Click on PDF document called ‘rare and inherited disease eligibility criteria’
Breast teams
For hospital Breast teams sending samples for R208 or R444, please use this bespoke test request form.
Whole genome sequencing
For hospital teams arranging whole genome sequencing based tests, please find relevant information and forms.
Whole genomic sequencing – North East and Yorkshire Genomic Medicine Service North East and Yorkshire Genomic Medicine ServiceFor teams arranging r14 test (rapid whole genome sequencing test for acutely unwell children with a likely monogenic disorder, where rapid testing is required to guide immediate clinical management).
R14 Rapid Genome Sequencing Service Exeter Clinical Laboratory InternationalThis request must be discussed with and approved by the clinical genetics team (usually the clinical genetics consultant oncall for urgent inpatient cases).
For teams arranging r21 test (fetus with multiple major structural abnormalities detected on fetal ultrasound).
Prenatal-reproductive genomic testing – Birmingham women's and children'sThis request must be discussed with and approved by the clinical genetics team and specialist MDT (usually the clinical genetics consultant oncall for fetal medicine cases).
