Rare Disease Tests
We are transitioning to deliver testing according to the National Genomic Rare Disease Test Directory according to the rare and inherited disease eligibility criteria:
Please continue to order tests as per your current practice during this transition period.
Turn around times
Consent and the protection of patient information
All genetic testing requires consent. It is the responsibility of the referring clinician to ensure appropriate consent has been obtained. Where there is no written consent on request forms the assumption is made that the appropriate health care professional has obtained informed consent prior to obtaining samples. The Medical Genetics Laboratory will act on the understanding that samples have only been taken under the direction of medical staff acting in the best interest of the patient.
Samples and the information generated from them may be shared with member's of the patient's family and their health professionals (if appropriate).
The Medical Genetics Laboratory follows Trust Policies and Caldecott principles to safeguard all patient information.
DNA from all referrals is currently retained for quality assurance purposes and may be used anonymously for the development of new tests unless consent for this is expressly denied.
Please note: karyotype or microarray analysis is essentially a whole genome analysis at varying levels of resolution. In a small proportion of referrals this form of analysis may identify unexpected findings with unexpected consequences for the individual tested for his/her family.
Samples must be accompanied by a completed request form including the consent section. The requester’s name and contact details must be legible.
Download the Genetic labs referral form here below.
Note that inadequate information on the referral form may cause unnecessary delays in sample processing.
Non-urgent advice: Contact Genomic Labs
For Healthcare Professionals:
Email address: firstname.lastname@example.org
Telephone: 01223 348866
The laboratory is staffed from 8:30am to 5:30pm
Sample reception is open from 8.30 to 5.30pm
Specimens arriving outside these hours will be refrigerated prior to processing. There is no out-of-hours service.
Send samples to:
Genetic Laboratory Specimen Reception, Box 143, ATC Level 6, Addenbrooke’s Hospital, Hills Road, Cambridge, CB2 0QQ
Transport within Addenbrooke's Hospital:
Pneumatic tube (hospital POD) / Destination code (POD number) 36.