Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R312

Parental sequencing for lethal autosomal recessive disorders

Test Group

Specialised

Specialties

Clinical Genetics

Test code

R312.1

Test name

N/A

Target genes

Relevant panel(s) in PanelApp

Test scope

n/a

Test method/ technology

WES or Large penel

Optimal Family Structure

n/a

Eligibility Criteria

1. Lethal disorder with likely autosomal recessive inheritance in which there is limited or no DNA from the deceased individual, AND
2. Both parents are available for testing

Test code

R312.2

Test name

N/A

Target genes

Relevant panel(s) in PanelApp

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

1. Lethal disorder with likely autosomal recessive inheritance in which there is limited or no DNA from the deceased individual, AND
2. Both parents are available for testing

Commissioning group

Other

Overlapping idications

n/a

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/

Request form download

Rare Disease Order Form Record of Discussion Form

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