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Oxford University Hospitals NHS Foundation Trust

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Specimen requirements - red cell disorders (haemoglobinopathies and rare anaemias)

Ideally fresh 2 x 4*ml EDTA blood sample labelled with the patient's forename, surname, date of birth and NHS number (if appropriate).

A minimum of two identifiers must be provided, or the sample cannot be accepted for testing.

Samples should be sent with the following.

  1. A completed referral form which should contain the patient identifiers, the ethnic origin, reason for referral and the tests required.
  2. Full red cell phenotypic data must be supplied (red cell indices) from a recent full blood count. HPLC (or CE) and any other electrophoresis results including raw data should also be supplied. The iron status (ferritin level) and any other pertinent clinical details or relevant laboratory test results are also helpful.

For optimal DNA analysis results, blood samples should be less than five days old. However samples up to one month old that have been kept refrigerated may give satisfactory results.

*DNA extraction can be attempted from blood samples of 0.5-2ml but may not provide adequate amounts of DNA to complete complex analyses.

DNA extracted at the referral laboratory (local GLH provider) is also acceptable for genetic testing (>50µl preferably >100ng/µl).

It is essential that the red cell indices and haemoglobin separation results (HPLC or CE) are provided (ideally including the raw data) for these haemoglobinopathy referrals to enable full interpretation of the genetic results in the context of the phenotype. This is in accordance with best practice guidelines for haemoglobinopathy genetic analysis (EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur J Hum Genet 2015).

There are separate referral forms for genotype analysis and prenatal diagnosis. The appropriate referral form must be filled in and returned with the samples. See referral forms.

Samples should always be sent in appropriate packaging by Royal Mail First Class Post / Royal Mail Guaranteed Next Day Delivery, or for urgent samples, by courier service.

All non-PND referrals should be sent to the following address (see 'Prenatal diagnosis requests section' for address to send PND samples and accompanying parental samples).

Molecular Haematology
Level 4, John Radcliffe Hospital
Headington
Oxford OX3 9DU

Prenatal diagnosis requests

The laboratory must be telephoned or emailed in advance of the fetal sampling procedure (direct CVS or amniotic fluid) to make arrangements for the referral of a prenatal diagnosis case, including provision of secure contact details to report the result by email. This will also allow us to check whether we have archived parental DNA available from any previous PND referrals otherwise fresh parental blood samples will be required.

Requirements

Ideally 2 x 4ml fresh parental EDTA blood samples (or extracted parental DNA) must be sent with the fetal sample, together with a completed prenatal diagnosis request form with the following parent information clearly supplied: haematological results from both parents (full blood count, HPLC/Capillary Electrophoresis results including % of Hb A2, F values and any Hb variants ).

If the biological father is unavailable for blood sampling, a copy of his haemoglobinopathy screening report containing all of his haemoglobinopathy laboratory results and stating his haemoglobin phenotype should be provided (from a UKAS accredited laboratory).

If a haemoglobinopathy screening report is not available from the biological father please advise the mother that the PND test is offered on a risk basis only and that turnaround-time (TAT) is likely to be longer.

Fetal sample

To ensure the most rapid and efficient testing, DNA extracted from CVS, amniotic fluid or fetal blood* should be provided for prenatal diagnosis (with the parental blood samples unless they have been sent in advance of the fetal sampling procedure).

If it is not possible to send fetal DNA the following samples are acceptable.

Chorionic villus biopsy sample (CVS)

The CVS must be cleaned by microscopic dissection to remove any contaminating maternal tissue before sending to the address above for DNA analysis. The referrer must arrange for this to be carried out at a local cytogenetics laboratory, and also instruct the lab to forward the sorted CVS by guaranteed post or courier.

It is recommended that a CVS culture is set up by the Cytogenetics Laboratory for backup purposes if this is not to be done routinely by the lab for karyotyping. The Oxford Genetics Laboratory Haemoglobinopathy Testing Service will contact the Cytogenetics Laboratory if the backup cultures are required.

The cleaned CVS should be sent to the Oxford Regional Genetics Laboratories (RGL) in culture medium.

Amniotic fluid sample

Obstetric departments should aim to take >20 mls of amniotic fluid. At least 10mls can then be forwarded directly to the RGL for testing. The remaining ~10 mls can be sent to a local cytogenetics laboratory for backup cultures. The Oxford Genetics Laboratory Haemoglobinopathy Testing Service will contact the cytogenetics laboratory if the backup cultures are required. If it is not possible to obtain 20mls of amniotic fluid please telephone the laboratory for advice.

Fetal blood

On very rare occasions fetal blood sampling may be performed and a fetal blood sample sent preserved in EDTA for analysis. For example, for the diagnosis of homozygous alpha0-thalassaemia in a fetus diagnosed as hydropic by ultrasound.

Address for samples

All PND related samples (both the fetal and parental samples) should be sent to the following address:

Specimen Reception
Oxford Regional Genetics Laboratories
Churchill Hospital
Oxford OX3 7LE

Patient consent

Patient consent should be obtained for medical investigations for a haemoglobinopathy/rare anaemia.

This permits the referral of the blood sample to another laboratory for: additional investigations of the anaemia, the storage of the patient's DNA sample for any further investigations related to the patient's diagnosis in the future, the use of the patient's DNA for quality assurance in laboratory tests, the use of the patient's DNA for education and training of laboratory staff and entry of patient data into confidential national databases.

It will not permit the analysis of the patient's DNA for any other genetic disorder without further specific consent for that test.

Quality assurance

The Oxford Genetics Laboratory Haemoglobinopathy Testing Service participates in:

  • the NEQAS 'DNA diagnostics for haemoglobinopathies' scheme
  • the NEQAS 'Hb A2/Hb F & abnormal haemoglobins' scheme
  • the newborn sickle screening scheme
  • the NEQAS full blood count scheme.