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

R293

Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology

Test code

R293.1

Test name

N/A

Target genes

GNAS, PRKAR1A and PDE4D

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a clear clinical diagnosis of Albright hereditary osteodystrophy, pseudohypoparathyroidism or pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis based on clinical, radiological and/or biochemical assessment

Test code

R293.2

Test name

N/A

Target genes

GNAS DMRs

Test scope

n/a

Test method/ technology

Methylation testing

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a clear clinical diagnosis of Albright hereditary osteodystrophy, pseudohypoparathyroidism or pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis based on clinical, radiological and/or biochemical assessment

Test code

R293.3

Test name

N/A

Target genes

STX16

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Individuals with a clear clinical diagnosis of Albright hereditary osteodystrophy, pseudohypoparathyroidism or pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis based on clinical, radiological and/or biochemical assessment

Commissioning group

Specialised

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