Sample Types Accepted

Amniotic fluid

Send 10-20ml in a sterile, leak-proof, plain (no anticoagulant) plastic container. Samples that require maternal cell contamination or identity testing (e.g. microarray analysis) must be accompanied by a maternal blood sample (5ml EDTA). Samples must arrive in the lab within 24 hours.

Chorionic villi biopsy

The minimum size requirements for the specimen are dependent on the reason for referral, usually 10-30mg in a sterile transport medium; contact the laboratory on 0161 276 6553 for more details. CVB samples should be received on the same day they are taken and preferably no later than 4.00pm. Samples that require maternal cell contamination or identity testing (e.g. microarray analysis) must be accompanied by a maternal blood sample (5ml EDTA). Samples must arrive in the lab within 24 hours.

Fetal blood

Send 1ml in a 2ml paediatric EDTA tube and mix well to avoid clotting. Samples must arrive in the lab within 24 hours. Please clearly mark the sample as “fetal blood”.

Blood samples for rare disease and inherited cancer gene and panel (DNA) testing

Use EDTA tubes only. We require at least 4ml for adults and children and at least 1ml for neonates. Mix well to avoid clotting. Can be stored overnight at 4°C if required.

Blood samples for common aneuploidy or ambiguous genitalia testing

Use one EDTA tube and one lithium heparin tube. We require at least 4ml of each for adults and children and at least 1ml for neonates. Send within 48 hours of venepuncture and mix well to avoid clotting. Can be stored overnight at 4°C if required.

Blood samples for microarray testing (developmental delay, congenital abnormalities etc.)

Use EDTA tubes only. We require at least 4ml for adults and children, at least 1ml for neonates. Mix well to avoid clotting. Can be stored overnight at 4°C if required.

Blood samples for constitutional karyotype/FISH

Use lithium heparin tubes only. We require at least 4ml for adults and children and at least 1ml for neonates. Send within 48 hours of venepuncture and mix well to avoid clotting. Can be stored overnight at 4°C if required.

Mouthwash and buccal samples

Use Oragene containers only for mouthwash sample collections and the IsoHelixTM system for buccal swabs. Please note that these samples may not necessarily provide DNA of sufficient quantity and quality for all available tests. Advice on how to obtain sample containers and on the appropriateness of these samples for your testing requirement is available from the testing laboratory.

PLEASE NOTE: We are able to accept buccal swabs for testing from patients who are NOT suspected of having COVID-19. We cannot accept buccal swabs from patients known or suspected to have COVID-19; if there are exceptional circumstances and only a buccal swab can be taken please contact the laboratory for advice.

Blood spot cards

Use a Guthrie card to collect blood spot samples. Samples must arrive in the lab within 24 hours.

Solid tumours in FFPE for Molecular Genetic Testing

Please refer to the specific requirements for FFPE tumour samples detailed in the cancer section here.

Fresh Solid tumours for Molecular Genetic Testing

Please refer to the specific requirements for fresh solid tumour samples detailed in the cancer section here.

Haematology Oncology

Please refer to the specific services which can be accessed here and the information below:

Blood Samples for Karyotype/FISH

For karyotype/FISH 1-5ml blood should be taken in lithium heparin.

Blood Samples for Molecular Genetic Testing

For molecular genetic testing 1-10ml blood should be taken in EDTA.

Bone marrow samples for karyotype/FISH

Bone marrow aspirates (1-2ml) should be taken into transport medium available from the laboratory by contacting the Duty Scientist (mft.genetics-oncology@nhs.net) prior to the procedure. Sample should be sent to the laboratory as soon as possible following sampling, to arrive at the laboratory between 9am and 5pm Monday to Friday, and may be refrigerated overnight if necessary. Please note that samples with a cell concentration of <10⁶/ml and heavily blood stained aspirates are less likely to yield a reportable result.

Bone marrow samples for Molecular Genetic Testing

DNA extracted from bone marrow aspirate in transport medium or EDTA is suitable for molecular genetic testing. A volume of at least 3ml is desirable. However DNA extracted from cultured and fixed bone marrow cells (stored following cytogenetic analysis) is often of poor quality and may be unsuitable for DNA testing.

FFPE for Molecular Genetic Testing

A minimum of 5 shavings/curls 4-5um thick should be sent to allow adequate extraction of DNA for molecular genetic testing.

Lymph node samples for karyotype/FISH

Lymph node samples should be taken into transport medium available from the laboratory by contacting the Duty Scientist (mft.genetics-oncology@nhs.net) prior to the procedure. Samples should be sent to the laboratory as soon as possible following sampling, to arrive at the laboratory between 9am and 5pm Monday to Friday, and may be refrigerated overnight if necessary.

Tumour samples for karyotype/FISH

Tumour samples should be taken into transport medium available from the laboratory by contacting the Duty Scientist (mft.genetics-oncology@nhs.net) prior to the procedure. Sample should be sent to the laboratory as soon as possible following sampling, to arrive at the laboratory between 9am and 5pm Monday to Friday, and may be refrigerated overnight if necessary.

FFPE samples for FISH (Haematology Oncology / Tumours)

Sections 4-5µm thick on a positively charged slides should be sent with an H&E slide clearly highlighting the areas of the tumour to be examined.

Fresh solid tissue for rare disease testing

Do not expose to formalin. Send in a leak-proof, sterile, plastic container, dry or in sterile saline if stored at 4°C overnight. The most appropriate tissue types to send us are:

• A full depth skin sample (0.5cm³).
• A sample of cord (2-3cm in length; please do not include a cord clip)
• A cord or cardiac blood sample (at least 0.5ml collected into a 1-2ml EDTA paediatric tube).

Please read our Solid Tissue Sample Requirements and Referral Criteria for further information.

Skin biopsy for fibroblast cell culture

Skin biopsies should be taken into tissue transport medium available from the GLH by contacting the Duty Scientist (0161 276 6553) prior to the procedure. Samples may also be collected in sterile saline. Sample should be sent to the laboratory as soon as possible following sampling, to arrive at the laboratory between 9am and 5pm Monday to Friday, and may be refrigerated overnight if necessary.

Other samples

By prior arrangement only. Please contact the laboratory.