Red cell genotyping

The Molecular Diagnostics laboratory is now under the management of the H&I Function. There is no change to the services we provide, this includes the contact details for the laboratory, sample referral process or reporting. The UKAS Extension to Scope to move Molecular Diagnostics activities from customer number 9765 (IBGRL) to 9239 (H&I) has been granted.

The Molecular Diagnostics department is a UKAS accredited medical laboratory (number 9239). We offer tests to national and international customers.

In multi-transfused patients or DAT positive patients, the presence of transfused red cells or auto-antibodies can prevent determination of blood group phenotype by serological techniques, however genetic analysis can be used to predict blood group phenotype.

Red cell genotyping from blood, amniotic fluid or chorionic villi

IBGRL Molecular Diagnostics uses various techniques to determine blood group genotype: Allele-specific PCR, real-time PCR (allelic discrimination using Taqman probes) and HEA Beadchip. The technique used will depend on the test requested and the current workload in the laboratory.

Available genotyping tests

Blood Group Genotyping (patients and donors)

Please note that standard patient genotyping requests can be performed urgently, (<10 working days and within 48 hours), for an added premium.

Investigation	Notes	Samples required (minimum 0.5ml EDTA blood)	Accompanying form	Turnaround times
Standard Genotyping	(RhD, C, c, E, e, K/k, Fy^a/b, Jk^a/b, M/N, S/s, U-, U^var)	1.3ml EDTA blood or 5ml Amniotic fluid For CV send pre-extracted DNA (min conc of 10ng/µl & min volume 60µl)	FRM4738 (Word 51KB) FRM4738 Guidance (PDF 146KB)	Within 10 business days (or 48 hours for an added premium)
Extended Genotyping	RhD, C, c, E, e, V, VS, K/k, Kp^a/b,Js^a/b, Fy^a/b, Fy^X, Jk^a/b, M/N, S/s, U-, U^var , Lu^a/b, Di^a/b, Co^a/b, Do^a/b, LW^a/b, Sc as required	1.3ml EDTA blood or 5ml Amniotic fluid For CV send pre-extracted DNA (min conc of 10ng/µl & min volume 60µl)	FRM4738 (Word 51KB) FRM4738 Guidance (PDF 146KB)	Within 10 business days
Extended Genotyping (haemoglobinopathy array) - This genotyping test array is particularly suited for haemoglobinopathy patients	RhD, C, c, E, e, (including common RhD, C and e variants),V, VS, hrB, hrS , K/k, Kp^a/b, Js^a/b,Do^a/b, Fy^a/b, Jk^a/b, M/N, S/s, U-, U^var	1.3ml EDTA blood	FRM4738 (Word 51KB) FRM4738 Guidance (PDF 146KB)	Within 12 weeks

Investigation

Notes

Samples required (minimum 0.5ml EDTA blood)

Accompanying form

Turnaround times

Standard Genotyping

(RhD, C, c, E, e, K/k, Fy^a/b, Jk^a/b, M/N, S/s, U-, U^var)

1.3ml EDTA blood

or 5ml Amniotic fluid

For CV send pre-extracted DNA (min conc of 10ng/µl & min volume 60µl)

FRM4738 (Word 51KB)

FRM4738 Guidance (PDF 146KB)

Within 10 business days (or 48 hours for an added premium)

Extended Genotyping

RhD, C, c, E, e, V, VS, K/k, Kp^a/b,Js^a/b, Fy^a/b, Fy^X, Jk^a/b, M/N, S/s, U-, U^var , Lu^a/b, Di^a/b, Co^a/b, Do^a/b, LW^a/b, Sc as required

1.3ml EDTA blood

or 5ml Amniotic fluid

For CV send pre-extracted DNA (min conc of 10ng/µl & min volume 60µl)

FRM4738 (Word 51KB)

FRM4738 Guidance (PDF 146KB)

Within 10 business days

Extended Genotyping (haemoglobinopathy array) - This genotyping test array is particularly suited for haemoglobinopathy patients

RhD, C, c, E, e, (including common RhD, C and e variants),V, VS, hrB, hrS , K/k, Kp^a/b, Js^a/b,Do^a/b, Fy^a/b, Jk^a/b, M/N, S/s, U-, U^var

1.3ml EDTA blood

FRM4738 (Word 51KB)

FRM4738 Guidance (PDF 146KB)

Within 12 weeks

Additional information

Documents and forms

Demand printed labels

If you would like NHSBT to consider accepting samples from your hospital / Trust which have been labelled using a demand printed labelling system, please complete the application form below. The sample label requirements are specified on the form.

Complete the application form

Limitations and caveats of blood group genotyping

The molecular biology of blood groups, and particularly of the Rh system, is complex and genetic differences may be found in ethnic groups. It remains a possibility that on very rare occasions genotyping results may not correspond to serological phenotype. Clinical decisions should not, therefore, rest solely on genotyping results.

People who have received a transplant following which incomplete engraftment has taken place may exhibit chimerism in their blood cell populations and therefore in their DNA; this may give incorrect genotyping results or prevent a conclusive result being issued. Clinical history of transplantation should be recorded on the request form.

Reporting results and turnaround times

UK laboratories

Turnaround times will depend on the complexity of the test required. IBGRL normally issues 85% of reports within the turnaround times stated. Quicker turnaround times are possible for urgent samples - please enquire (see details above).

Summary of 2017/22 turnaround times achieved (PDF 352KB)

A single report will be posted to the address indicated on the referral form. Reports are also available on the Sp-ICE reporting system.

Reports available to view on the Sp-ICE system in PDF format:

Fetal genotyping from maternal plasma
Full genotyping for common blood group antigens
Sex typing

If you do not currently have access to the Sp-ICE browser and wish to view these reports, please contact your local Transfusion Laboratory Manager (Sp-ICE primary contact) or e-mail ICE@nhsbt.nhs.uk for training and access.

International laboratories

A paper copy of results will be sent to the clinician indicated on the accompanying form. Urgent cases can be reported by e-mail.

Shipping/sample requirements for referring UK laboratories

Please see user guide INF1135 for sample acceptance criteria.

Samples should be sent by first class mail or courier to ensure arrival, between Monday and Friday, within the specified time frame listed in the user guide. Blood samples can be sent at room temperature.

Samples which have lysed due to prolonged time in transit, or which are not in the desired anti-coagulant (See table above), will not be tested.

Please complete and return the appropriate form (See table above).

Please indicate the urgency of the investigation and the infection risk status, if known.

Information regarding the ethnic origin of the patient and partner and previous relevant clinical history is very useful for interpretation of results.

Please indicate which clinician the result should be reported (other than the referring laboratory) and where the invoice should be addressed.

Shipping/sample requirements for referring international laboratories

Please see user guide INF1135 for sample acceptance criteria

Samples should be sent by express mail, courier or by air freight to ensure arrival, between Monday and Friday, within the specified time frame listed in the user guide.

Samples which have lysed due to prolonged time in transit, or which are not in the desired anti-coagulant (See table above), will not be tested.

Please complete and return the appropriate form (See table above).

Please indicate the urgency of the investigation and the infection risk status, if known.

Information regarding the ethnic origin of the patient and partner and previous relevant clinical history is very useful for interpretation of results.

Please indicate which clinician the result should be reported (other than the referring laboratory) and where the invoice should be addressed.

Molecular Diagnostics

More information on our services

Fetal genotyping – diagnostic Fetal RHD screen Licensing and accreditation Customer surveys

User guide

Download our user guide for referring samples to IBGRL Molecular Diagnostics.

INF1135.9 Molecular Diagnostics User Guide (PDF 406KB) This document will open in a new window

Have a question?

Please contact the laboratory or our business development manager for more information:

If you wish to set up a contract to send samples or would like to obtain information regarding the tests performed, please contact Erika Rutherford.

For all other enquiries, please contact Molecular Diagnostics.