Order or find a test

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

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Rare Disease Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

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