Request / Find a Test Tool

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Clinical Indication ID & Name

R151

Familial hyperparathyroidism or Hypocalciuric hypercalcaemia

Test Group

Endocrinology

Specialties

Clinical Genetics Endocrinology

Test code

R151.1

Test name

N/A

Target genes

Familial hyperparathyroidism (480) and Hypocalciuric hypercalcaemia (481) 

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Familial Primary Hyperparathyroidism
i) <50y, OR ii) any age with a) a confirmed or relevant family history, OR b) multiglandular disease or hyperplasia in the presence of relevant family history, OR c) parathyroid carcinoma or atypical or cystic adenoma, OR d) ossifying fibroma(s) of the maxilla and /or mandible. Hypocalciuric hypercalcaemia Hypercalcaemia with hypocalciuria (calcium clearance: creatinine clearance ratio < 0.02), usually with normal PTH

Test code

R151.2

Test name

N/A

Target genes

Familial hyperparathyroidism (480) and Hypocalciuric hypercalcaemia (481)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Familial Primary Hyperparathyroidism
i) <50y, OR ii) any age with a) a confirmed or relevant family history, OR b) multiglandular disease or hyperplasia in the presence of relevant family history, OR c) parathyroid carcinoma or atypical or cystic adenoma, OR d) ossifying fibroma(s) of the maxilla and /or mandible. Hypocalciuric hypercalcaemia Hypercalcaemia with hypocalciuria (calcium clearance: creatinine clearance ratio < 0.02), usually with normal PTH

Commissioning group

Specialised

Overlapping idications

• R319 Calcium-sensing receptor phenotypes single gene test should be considered in neonatal hyperparathyroidism • R217 and R218 Multiple endocrine neoplasia indications should be used where there are features of multiple endocrine neoplasia including hypercalcaemia • R226 parathyroid carcinoma should be used for individuals with confirmed parathyroid carcinoma

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

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form