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.

Amyloidosis (502)

Clinical Indication ID & Name

R204

Amyloidosis (502)

Test Group

Renal

Specialties

Cardiology Clinical Genetics Nephrology Neurology Haematology Gastroenterology

Test code

R204.1

Test name

N/A

Target genes

Amyloidosis (502)

Test scope

n/a

Test method/ technology

Small panel

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of hereditary amyloidosis which may include restrictive cardiomyopathy, autonomic and peripheral neuropathy, renal impairment or GI symptoms.

Test code

R204.2

Test name

N/A

Target genes

Amyloidosis (502)

Test scope

n/a

Test method/ technology

Exon level CNV detection by MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Clinical features suggestive of hereditary amyloidosis which may include restrictive cardiomyopathy, autonomic and peripheral neuropathy, renal impairment or GI symptoms.

Commissioning group

Highly Specialised

Overlapping idications

n/a

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