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
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