Clinical Indication ID & Name
Short stature - SHOX deficiency
Test Group
Musculoskeletal
Specialties
Test code
R52.1
Test name
N/A
Target genes
SHOX
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Disproportionate short stature with features in the patient or relatives suggestive of SHOX deficiency, e.g. Madelung deformity
Test code
R52.2
Test name
N/A
Target genes
SHOX
Test scope
n/a
Test method/ technology
Single gene sequencing <10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Disproportionate short stature with features in the patient or relatives suggestive of SHOX deficiency, e.g. Madelung deformity
Commissioning group
Specialised
Overlapping idications
• R147 Growth failure in early childhood to be used for more significant/earlier onset short stature, including where Silver-Russell syndrome is the likely diagnosis • R382 Hypochondroplasia and R24 Achondroplasia • R104 Skeletal dysplasia to be used where clinical features indicative of a likely monogenic skeletal dysplasia
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
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
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