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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form