Order or find a test

Please continue to use the test directory below. The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Synnovis strike action: see news page for more details https://southeastgenomics.nhs.uk/synnovis-industrial-strike-action-16th-dec-20th-dec-inclusive/

Clinical Indication ID & Name

R352

Mitochondrial DNA maintenance disorder

Test Group

Mitochondrial

Test code

R352.1

Test name

N/A

Target genes

Mitochondrial DNA maintenance disorder (533)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of mtDNA maintenance disorder and/or evidence of mtDNA depletion or multiple mtDNA deletions

Test code

R352.2

Test name

N/A

Target genes

Mitochondrial DNA maintenance disorder (533)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of mtDNA maintenance disorder and/or evidence of mtDNA depletion or multiple mtDNA deletions

Commissioning group

Highly Specialised

Overlapping idications

• R63 Possible mitochondrial disorder - nuclear genes test should be considered where a broader range of mitochondrial nuclear genes are potentially causative

Address for samples/request forms

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Consent record

See consent guidance in test request form

Sample requirements

Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old