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.

Congenital anomalies of the kidney and urinary tract – familial

Clinical Indication ID & Name

R199

Congenital anomalies of the kidney and urinary tract - familial

Test Group

Core

Specialties

Clinical Genetics Nephrology

Test code

R199.1

Test name

N/A

Target genes

Genomewide

Test scope

n/a

Test method/ technology

Microarray

Optimal Family Structure

n/a

Eligibility Criteria

Patients with a primary renal tubulopathy presenting as one of the following conditions:
1. Hypokalaemic alkalosis with normal or low blood pressure (e.g. Bartter/Gitelman syndromes), OR
2. Hypokalaemic alkalosis with elevated blood pressure (e.g. Liddle syndrome), OR
3. Hyperkalaemic acidosis with low/normal BP (PHA type 1), OR
4. Hyperkalaemic acidosis with elevated BP (PHA type 2), OR
5. Hypokalaemic acidosis (pRTA and renal Fanconi syndromes), OR
6. Hypomagnesaemia, OR
7. Nephrogenic diabetes insipidus, OR
8. Other rare types of renal tubulopathy seen in an expert center

NOTE: Patients with electrolyte imbalance secondary to non-renal processes should not be tested under this indication

Commissioning group

Core

Overlapping idications

• R183 Glucocorticoid-remediable aldosteronism (GRA) • R344 Primary hyperaldosteronism – KCNJ5 • R256 Nephrocalcinosis or nephrolithiasis

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

Molecular, Cytogenetic, Neurogenetic and NIPD Test Request Form RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form