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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

R98

Likely inborn error of metabolism

Test Group

Metabolic

Test code

R98.2

Test name

Inborn errors of metabolism WGS (phase 1)

Target genes

WGS

Test scope

Exon level CNVs, Small variants, STRs

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Clinical feature of a likely inborn error of metabolism where targeted testing is not possible

Test code

R98.3

Test name

Inborn errors of metabolism WES

Target genes

Test scope

Exon level CNVs, Small variants

Test method/ technology

WES

Optimal Family Structure

n/a

Eligibility Criteria

n/a

Commissioning group

Specialised

Overlapping idications

• Targeted tests for specific metabolic disorders should be used where clinical features or biochemical/enzyme testing results are rapidly available and strongly suggestive of the relevant disorder(s)

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

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: 1. Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (1-7µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). 2. Bone marrow sample in EDTA tube, cell count must be provided. 3. Cultured Fibroblasts in medium 4. Fresh tissue with at least 30% tumour cell content: Adequate sample sizes include 5mm x 5mm x 2mm tissue or 15mm x 2mm needle core biopsy. Multiple biopsies recommended if clinically feasible. Tissue should be embedded in OCT or preserved in RNA Later where appropriate 5. Extracted DNA , 1 μg to 7.2 μg depending on WGS pathway. Storage, sample packing and transportation: Blood and bone marrow samples should be stored at 4°C whenever possible and sent at room temperature via first-class post or courier. Tissue samples preserved in RNA Later can be shipped at room temperature, while fresh tissue samples must be shipped on ice/dry ice. All samples should arrive at the laboratory within 24 hours of collection. Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: Clotted samples are unsuitable for DNA analysis. Blood Samples in incorrect anticoagulant tubes may be rejected.