Clinical Indication ID & Name
Hypochondroplasia
Test Group
Core
Specialties
Test code
R382.1
Test name
N/A
Target genes
FGFR3 c.1620
Test scope
n/a
Test method/ technology
Targeted mutation testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features strongly suggestive of hypochondroplasia
Commissioning group
Core
Overlapping idications
• R309 NIPD for FGFR3-related skeletal dysplasias - mutation testing • R24 Achondroplasia testing may also be indicated if clinically relevant • R52 Short stature – SHOX deficiency • R104 Skeletal dysplasia test should be used where features are atypical and a broader range of genes are likely to be causative
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