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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

R84

Cerebellar anomalies

Test Group

Neurology

Specialties

Clinical Genetics Neurology

Test code

R84.4

Test name

Hereditary ataxia and cerebellar anomalies - childhood onset WGS (phase 1)

Target genes

Hereditary ataxia and cerebellar anomalies - childhood onset (488)

Test scope

Exon level CNVs, Small variants, STRs

Test method/ technology

WGS

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Likely monogenic cerebellar malformation, cerebellar or pontocerebellar hypoplasia or childhood-onset cerebellar atrophy
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Where in Pathway
At presentation following MRI brain and assessment by a Neurologist or Clinical Geneticist

Test code

R84.5

Test name

Hereditary ataxia and cerebellar anomalies - childhood onset confirmatory STR testing

Target genes

Hereditary ataxia and cerebellar anomalies - childhood onset (488)

Test scope

STRs

Test method/ technology

Confirmatory STR testing

Optimal Family Structure

n/a

Eligibility Criteria

Testing Criteria
Likely monogenic cerebellar malformation, cerebellar or pontocerebellar hypoplasia or childhood-onset cerebellar atrophy
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Where in Pathway
At presentation following MRI brain and assessment by a Neurologist or Clinical Geneticist

Commissioning group

Specialised

Overlapping idications

n/a

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

RD WGS request form WGS Record of Discussion

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