Rare Disease Service

Introduction

The Rare Disease service confirms mutations found in research laboratories and tests for these mutations within the extended family. Testing for unidentified mutations (mutation scanning) falls outside the scope of the service, even if these are recurrent.

Referral information

We accept referrals from Clinical Geneticists for tests in genes not offered as a service within the UK Genetic Testing Network. An application form for mutation confirmation can be downloaded from our website. This form must be completed for index cases only (see Useful Forms).

Price & reporting times

NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. In other cases please contact the lab for prices.

Test	Price (NHS)	Price (Non-NHS)	TRT (calendar days)
Mutation confirmation	POA	POA	56
Mutation test	POA	POA	28
Urgent/Predictive mutation test	POA	POA	14
Prenatal diagnosis	POA	POA	3

Test validation & quality assurance - information for users

For point mutations, SNP checked disease specific primers are designed to amplify a DNA fragment of approximately 400 base pairs encompassing the mutation. All primers incorporate a universal tag enabling multiple sequencing tests to be carried out using the same conditions. Larger duplications and deletions are tested by a laboratory developed dosage PCR using two SNP checked primer pairs specific to deleted/duplicated exons in conjunction with three control primer pairs used to normalise and standardise between sample variation. Primer pairs all have tags to which a universal fluorescently labelled primer pair hybridises during PCR amplification.

Referral guidelines

Please see our referral guidelines for more information.

References

Pre-natal: amniotic fluid (minimum 15ml)/chorionic villus biopsy (CVB) (minimum 10mg) sample plus 4ml EDTA maternal blood sample

Post-natal: 4ml EDTA blood sample