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Sample requirements - heritable disorders

The result/report availability times given below represent the time required to produce a diagnostic report following receipt of the sample in the laboratory. Sample and report transport times are not included.

It is advisable not to post samples to the laboratory on a Friday or on the day preceding a bank holiday.

Please store samples at 4C before sending. Do not freeze, unless special arrangements have been made with the laboratory.

Prenatal Diagnosis (PND)

PND investigations are arranged in conjunction with the clinicians and obstetric service managing each individual, and vary depending on the nature of the disorder and the investigation required.  Please contact the laboratory directly in order to discuss each referral episode.

For further information call 0161 276 4809.

Investigation Blood sample requirement Result/report availability

Heritable Thrombophilia
Factor V Leiden and PGV mutation identification

3 mls EDTA- or citrate-anticoagulated blood Up to 10 working days
Hereditary Haemochromatosis
HFE mutation identification (C282Y, H63D, S65C)
3 mls EDTA- or citrate-anticoagulated blood Up to 10 working days

Haemophilia A
Haemophilia B
von Willebrand Disease
FXI deficiency
FVII deficiency
F8, F9, VWF, F11, F7 genes mutation detection

Please contact laboratory directly

Up to 6 weeks, depending on complexity of investigation

Prenatal diagnosis: 3 calendar days

Haemoglobinopathy
Alpha- and beta- thalassaemia, variant haemoglobin mutation detection
Please contact laboratory directly

Up to 6 weeks, depending on complexity of investigation

Prenatal diagnosis: 3 calendar days

TPMT genotyping*
Samples referred via CMFT Biochemistry (TPMT activity assay testing or triage for direct genotyping referral to the MDC)
Please contact laboratory directly Up to 10 working days
*from receipt in the MDC