Amniotic fluid – Send 10-20ml in a sterile, leak-proof, plain (no anticoagulant) plastic container. Samples for microarray analysis must be accompanied by a maternal blood sample (5ml EDTA). Do not freeze or expose to heat. Must arrive in lab within 24 hours.
Chorionic villi – 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. CVS samples should be received on the same day they are taken and preferably no later than 4.00pm. For samples referred for microarray analysis or a parental balanced rearrangement (ie, inversion or translocation) a maternal blood sample (5ml in EDTA) is required. Do not freeze or expose to heat. Must arrive in lab within 24 hours.
Fetal blood – Send 1ml in a 2ml paediatric lithium heparin tube and mix well to avoid clotting. Please clearly mark the sample as “fetal blood”.
Do not freeze or expose to heat. Can be stored overnight at 4°C if required.
Venous blood – samples for karyotyping, use lithium heparin tube only. We require at least 5ml for adults and children, at least 1ml for neonates. Send within 48 hrs of venepuncture and mix well to avoid clotting.
Samples for microarray testing (developmental delay, congenital abnormalities etc) please follow the guidelines for Gene(DNA) Analysis below
Chromosome breakage tests are initiated on a Tuesday or Friday morning ONLY. Please take this into consideration when sending blood samples to the laboratory for testing. Testing for Fanconi Anaemia requires a minimum of 2ml blood in lithium heparin.
Solid tissue – Do not expose to formalin. Send in a leak-proof, dry, sterile, plastic container, or sterile saline if stored overnight. The container should be wrapped with absorbent material and placed in a sealable polythene sample bag. The most appropriate tissue types to send us are:
Please read our Solid Tissue Sample Requirements and Referral Criteria for further information.
Skin Biopsy for fibroblast cell culture – Skin biopsies should taken into tissue transport medium available from the GDL 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.
Please refer to individual test pages for more specific requirements. Alternatively please contact the laboratory for further details. For general samples please see below:
Use EDTA tube only. We require at least 4ml for adults and children, at least 1ml for neonates. Store at 4°C and send by first-class post.
Use Oragene container only. Advice on how to obtain these is available from the laboratory office.
By prior arrangement only. Please contact the laboratory for more details.
Due to the wide range of tests carried out for biochemical genetic indications, it is not possible to list the full sample requirements. Please see the relevant service profile for detailed sample requirement. However, for guidance, the following sample types are used:
Peripheral blood samples for lymphocyte separation or EBV transformation to establish a cell line require 10-20ml blood (adults) or 2-10ml (children) collected in an Acid Citrate Dextrose (ACD) or Sodium Heparin tube. EDTA collection tubes may be used if ACD is not available.