Clinical Indication ID & Name
Congenital anomalies of the kidney and urinary tract - familial
Test Group
Core
Specialties
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
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection 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 Sample Storage and Volume Required: Peripheral blood in an EDTA tube: Adult and children 4 ml, Infants (0-2 years) 1 ml or a DNA sample (3-5µg of purified DNA). Where it is not possible to collect peripheral blood we will accept a saliva sample (please contact the lab for specific details). Storage, sample packing and transportation: Samples should arrive within 72 hours Patient/Clinician Instructions: N/A Factors affecting performance of test/interpretation of results: DNA extracted using Chelex/Instagene methods is not suitable for this test.