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Genetic testing for rare anaemia (R92)

Anaemia is defined by a low haemoglobin (Hb) level and can result from both environmental and genetic conditions.

The most common type of genetically determined anaemias are the haemoglobinopathies; the more common forms of which are tested under codes R93, R94, R361 & R362, but the haemoglobinopathy genes are also included on this panel because rarer forms of haemoglobinopathies overlap phenotypically with some of these rarer anaemia conditions.

This panel is focused on disorders that have anaemia as their main haematological phenotype, although the anaemia may be isolated or as part of a syndrome (although syndromes which have more severe other features are more likely to be found under R27 - congenital malformation and dysmorphism syndromes).

Disorders that typically affect multiple haematopoietic lineages are tested under R91 - Cytopenia. Fanconi anaemia is also tested for separately, under test indications R229, R258 & R260.

Most of the disorders on this panel fall into two main groups; erythrocytopenia conditions such as Diamond Blackfan Anaemia and Sideroblastic anaemia, or haemolytic anaemias such as red cell membrane disorders and enzymopathies.

Testing strategy

Clinically affected probands

  • R92.1 - As appropriate dosage analysis for copy number variants in the following genes: HBA1; HBA2; HBB; HBG1; HBG2; PKLR;
  • RPL11; RPL35A; RPS17; RPS19; RPS26; RPL5
  • R92.2 - If required - Sanger sequencing for the haemoglobinopathy genes: HBA1; HBA2; HBB; HBG1; HBG2
  • R92.3 -: analysis for small variants in the NGS gene panel

NHSE funded test referrals should meet the relevant NHSE eligibility criteria.

Genes tested

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

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
  • Clinical Genetics

Contact details

Haematology specific enquiries can also be emailed.

Email: oxford.molecularhaem@nhs.net

For other contact details, see contact us.

Price list for non NHSE referrals

A price list for rare disease services from April 2021 (pdf) is available.

Last reviewed:02 August 2021