Genetic testing for Cytopenia - NOT Fanconi Anaemia (R91)

This panel is primarily aimed at inherited disorders, such as inherited bone marrow failure conditions resulting in pancytopenia (for example, dyskeratosis congenita), and other disorders which can involve reduction of more than one cell lineage (for example, Shwachman-Diamond syndrome which typically involves neutropenia with anaemia and/or thrombocytopenia, or Diamond-Blackfan syndrome which can involve thrombocytopenia as well as anaemia).

However, it also includes isolated neutropenia (ELANE R313 should be tested before requesting this panel for isolated neutropenia) and thrombocytopenia (R90 bleeding and platelet disorders panel could be an appropriate alternative for this clinical indication).

However, isolated anaemia should be tested using the Rare Anaemia panel (R92) and R229 & R260 or R258 should be used for suspected Fanconi Ananemia.

Other disorders with severe syndromic features should be tested under R27 - Congenital malformation and dysmorphism syndromes - likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests.

Testing strategy

Clinically affected probands

• R91.1 - analysis for small variants in the NGS gene panel indicated below
• R92.2 - dosage analysis as appropriate for copy number variants in the following genes: RPL11; RPL35A; RPS17; RPS19; RPS26; RPL5; DKC1; TERT; TERC

Genes tested

Genes analysed are in accordance with the 'green' high evidence of clinical association gene list in panel app.

Targeted analysis for known / previously reported familial variants

• Presymptomatic testing in clinically unaffected family members at risk of inheriting a previously reported familial pathogenic variant (R242)
• Diagnostic confirmation in individuals at risk of inheriting a previously reported familial pathogenic variant and clinically suspected of having the familial condition (R240)
• Prenatal diagnosis is available for severe conditions (R240).
• Segregation studies in affected family members to aid variant interpretation (R375)
• Carrier testing in relatives of clinically affected patients with an autosomal recessive condition (mutation known) (R244).
  

Target reporting times

Diagnostic test target reporting time is 84 days.

For other reporting times, please see turnaround times.

Sample requirements and referral information

All referrals should be accompanied by a completed pre-referral form. See referral forms and specimen requirements and referring samples.

Clinical guidance and advice is available to referring clinicians from:

Dr Noémi Roy
Consultant Haematologist
John Radcliffe Hospital

Email: noemi.roy@ouh.nhs.uk

Requesting specialties

• Haematology
• Immunology
• Clinical Genetics

Contact details

Haematology specific enquiries can also be emailed.

Email: molecularhaem.oxfordgenetics@ouh.nhs.uk

For other contact details, see contact us.

Price list for non NHSE referrals

Price list for rare disease services (pdf)