Clinical Indication ID & Name
Renal tubulopathies (292)
Test Group
Renal
Specialties
Test code
R198.1
Test name
N/A
Target genes
Renal tubulopathies (292)
Test scope
n/a
Test method/ technology
WES or Medium Panel
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
Test code
R198.2
Test name
N/A
Target genes
Renal tubulopathies (292)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
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
Specialised
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
Supporting documents
Rare Disese WGS Clinician pack
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