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

R104

Skeletal dysplasia

Test Group

Musculoskeletal

Specialties

Test code

R104.3

Test name

N/A

Target genes

Skeletal dysplasia (309)

Test scope

n/a

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features indicative of a likely monogenic skeletal dysplasia
Patients with suspected severe congenital autosomal recessive malignant osteopetrosis where rapid genetic diagnosis is required for urgent patient management (e.g. curative stem cell transplantation) are eligible for urgent testing via R104.4

Test code

R104.4

Test name

N/A

Target genes

Osteopetrosis (943)

Test scope

n/a

Test method/ technology

WES or Large Panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features indicative of a likely monogenic skeletal dysplasia
Patients with suspected severe congenital autosomal recessive malignant osteopetrosis where rapid genetic diagnosis is required for urgent patient management (e.g. curative stem cell transplantation) are eligible for urgent testing via R104.4

Commissioning group

Specialised

Overlapping idications

R147 Growth failure in early childhood, should be considered if overlapping features are present

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