Clinical Indication ID & Name
Familial hypoparathyroidism
Test Group
Endocrinology
Specialties
Test code
R153.1
Test name
N/A
Target genes
Familial hypoparathyroidism (312)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Non-syndromic hypoparathyroidism with low calcium levels and low or inappropriately normal serum PTH, with no detectable cause
Testing of patients who are normocalcaemic may occasionally be appropriate after consultation with an expert in calcium homeostasis
Test code
R153.2
Test name
N/A
Target genes
GATA3
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Non-syndromic hypoparathyroidism with low calcium levels and low or inappropriately normal serum PTH, with no detectable cause
Testing of patients who are normocalcaemic may occasionally be appropriate after consultation with an expert in calcium homeostasis
Commissioning group
Specialised
Overlapping idications
• R293 Albright hereditary osteodystrophy, pseudohypoparathyroidism and pseudopseudohypoparathyroidism test should be used where there is high clinical suspicion of one of these diagnoses
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