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.

Haematuria (99)

Clinical Indication ID & Name

R194

Haematuria (99)

Test Group

Renal

Specialties

Audiology/ Audiovestibular Medicine Clinical Genetics Nephrology Ophthalmology Paediatrics

Test code

R194.1

Test name

N/A

Target genes

Haematuria (99)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Proband with haematuria and ONE of:
1. A first degree relative with haematuria or unexplained chronic renal failure, OR
2. Histological evidence following electron microscopy on renal biopsy of EITHER Alport syndrome (thickening and splitting of glomerular basement membrane +/- electron lucent areas) OR thin basement membrane disease (TBMD), OR
3. Clinical features of Alport syndrome (high tone sensorineural hearing loss or characteristic ophthalmic signs such as perimacular flecks or anterior lenticonus)

Test code

R194.2

Test name

N/A

Target genes

Haematuria (99)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Proband with haematuria and ONE of:
1. A first degree relative with haematuria or unexplained chronic renal failure, OR
2. Histological evidence following electron microscopy on renal biopsy of EITHER Alport syndrome (thickening and splitting of glomerular basement membrane +/- electron lucent areas) OR thin basement membrane disease (TBMD), OR
3. Clinical features of Alport syndrome (high tone sensorineural hearing loss or characteristic ophthalmic signs such as perimacular flecks or anterior lenticonus)

Commissioning group

Specialised

Overlapping idications

• R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations • R196 CFHR5 nephropathy test should be used as a first line test in patients of Cypriot ancestry with haematuria

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