Sample requirements and availability of lab results/reports

Arrow In this section

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 ORC MFT 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

Sample requirements – Molecular oncology

Minimal Residual Disease Monitoring – sample age and volume

The accurate monitoring of MRD from RNA requires the samples to be fresh – they should reach the laboratory ideally within 24 hours of phlebotomy and no later than 48 hours.

Samples received after 48 hours of being taken will seriously affect the sensitivity / reliability of the result.

For optimum results, the above also applies to samples where DNA is isolated. However samples for DNA analysis received up to 72 hours after being taken may yield data, which will be assessed on an individual basis to ensure they meet internal QC requirements to be issued.

NB: For all other oncology test requests, please contact the MDC laboratory duty scientist for advice.

Note that existing stored genetic material can be sent to our collaborative centres for additional specialist testing if not currently offered by us.

Fresh samples

Please store samples at 4°C before sending, (especially if required to store overnight prior to dispatch) do not freeze the sample at -20°C.

Peripheral blood, bone marrow aspirate and fresh / frozen biopsy material must be received as soon as possible with a cut off limit of 3.30pm to allow processing. The result and its reliability are seriously affected by the sample transit time and storage conditions.

In an emergency staff will support clinical teams and receive a sample until a final cut off of 4.30pm and process this out of hours.

However this special arrangement would need to be communicated to the team in advance.

Fixed tissue (FFPE)

Biopsy material such as tissue and bone marrow trephines, that are formalin fixed paraffin embedded tissue, can be received up to 5.00pm since they are stabilised and only require immediate storage prior to testing.

It is advisable not to post samples to the laboratory on a Friday or on the day preceding a bank holiday because the laboratory does not currently offer a weekend or bank holiday service.

Please store samples at 4°C before sending, (especially if required to store overnight prior to dispatch) do not freeze the sample at -20°C.

Reporting Molecular Oncology Laboratory Results

Results are reported as an authorised report posted directly to the referrer.  Results for central site MFT patients, other than MRD monitoring reports, can be accessed via the internal ICE system.

Clinical Scientific Diagnostic Advice and Results Interpretation

A key component of the service provided by the laboratory is the availability of expert clinical scientific advice. Advice is provided on the genetics and molecular biology of haematological malignant disorders, the investigation of these and the interpretation of test results.

Investigation Blood sample requirement Result / report available

Myeloid Variant Screening

(incorporating targeted varaint detection, FLT3-ITD, NPM1 and CEBPA testing)

see section on normal karyotype AML testing

10-20 mls EDTA-anticoagulated peripheral blood / or 2-3 mls EDTA-anticoagulated bone marrow

Up to 21 working days

For clinical urgency based upon priority clinical needs, a request can be made, and a shorter turn around time arranged with the Lab

Acute Myeloid Leukaemia

CBFβ-MYH11 inv(16)

AML1-ETO t(8;21)

NPM1 *

FLT3-ITD

* See section on NPM1 monitoring

15-20 mls EDTA-anticoagulated peripheral blood and 2-3 mls EDTA-anticoagulated bone marrow (see AML/APL section for sample requirements)

 

Up to 10 working days

For clinical urgency based upon priority clinical needs, a request can be made, and a 1 week turn around time arranged with the Lab

Acute Promyelocytic Leukaemia

PML-RARA t(15;17)

15-20 mls EDTA-anticoagulated peripheral blood and 2-3 mls EDTA-anticoagulated bone marrow (see AML/APL section for sample requirements)

 

Up to 10 working days

For clinical urgency based upon priority clinical needs, a request can be made, and a 1 week turn around time arranged with the Lab

Chronic Myeloid Leukaemia and ALL

BCR-ABL t(9;22)

 

 

 

 

 

 

 

 

 

 

 

BCR-ABL kinase domain mutation analysis

15-20 mls EDTA-anticoagulated peripheral blood and / or 2-3 mls EDTA-anticoagulated bone marrow when required (see CML and ALL section for sample requirements)

 

 

 

 

 

 

Same as above.

Please note: A separate sample is not required if MRD monitoring and AKD analysis are requested together.

 

Up to 15 working days for CML and ALL*

For clinical urgency based upon priority clinical needs, a request can be made, and a 1 week turn around time arranged with the Lab.

*Please note if BCR-ABL major negative, and where indicated, reflex testing for BCR-ABL minor will be performed.  This may increase the quoted TAT .

 

Up to 21 working days

For clinical urgency based upon priority clinical needs, a request can be made, and a shorter turn around time arranged with the Lab.

 

Myeloproliferative disorders

PV, ET and IMF

JAK2 V617F

CALR indels

MPL (W515L, W515K, W515A, S505N)

JAK2 exon 12 mutations

 

10-20 mls EDTA-anticoagulated peripheral blood (see MPD section page 22 for sample requirements)

**Note – sub-optimal sample volumes will delay sample processing which may increase the quoted TAT

Up to 15 working days**

 

For clinical urgency based upon priority clinical needs, a request can be made, and a 1 week turn around time arranged with the Lab

B and T Cell Lymphoma

Immunoglobulin and T cell receptor clonality analysis – refer samples directly to Leeds HMDS

Contact Leeds HMDS for sample requirements – see lymphoma section for contact details Please contact Leeds HMDS for TATs

(Last reviewed October 2018)