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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

R91

Cytopenia - NOT Fanconi anaemia

Test Group

Haematology

Specialties

Clinical Genetics Haematology Immunology

Test code

R91.1

Test name

N/A

Target genes

Cytopenia - NOT Fanconi anaemia (519)

Test scope

n/a

Test method/ technology

WES or Medium Panel

Optimal Family Structure

n/a

Eligibility Criteria

Persistent or recurrent cytopenia or pancytopenia of unknown cause where Fanconi anaemia is unlikely.

This includes unexplained isolated aplastic anaemia, thrombocytopenia or neutropenia

Test code

R91.2

Test name

N/A

Target genes

RPL11;RPL35A;RPS17;RPS19;RPS26;RPL5;DKC1;TERT;TERC

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Persistent or recurrent cytopenia or pancytopenia of unknown cause where Fanconi anaemia is unlikely.

This includes unexplained isolated aplastic anaemia, thrombocytopenia or neutropenia

Commissioning group

Specialised

Overlapping idications

• R258 Cytopenia – Fanconi breakage testing indicated should be used where exclusion of Fanconi anaemia using chromosome breakage testing is clinically indicated • R313 Neutropaenia consistent with ELANE mutations test should be used in cases of neutropaenia where ELANE mutations are plausible and have not been excluded • 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

Address for samples/request forms

SYNNOVIS ANALYTICS MOLECULAR PATHOLOGY LABORATORY
Molecular Pathology c/o Central Specimen Reception,
Blood Sciences Laboratory,
Ground Floor Bessemer Wing,
King’s College Hospital,
Denmark Hill,
London,
SE5 9RS

Contact with queries

kch-tr.pnd@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

Molecular Pathology 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