Sample Types

Specialist Cell Culture Samples

Blood samples
Use AcidCitrateDextrose-A or sodium heparin tube only. We require 10-20ml for adults, 2-10ml for children.

Other samples
By prior arrangement only. Please contact the specialist cell culture service for more details.

Chromosome (Cytogenetic) Analysis

Prenatal samples
Do not freeze or expose to heat. Must arrive in lab within 24 hours.

Amniotic fluid - Send 10-20ml in a sterile, leak-proof, plain (no anticoagulant) plastic container. Samples which are blood-stained or discoloured cannot be tested using rapid aneuploidy screening techniques due to the risk of false negative results caused by maternal cell contamination.

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 office on 0161 276 6553 for more details. CVS samples should be received on the same day as taken and preferably no later than 4.00pm. For samples referred for a parental balanced rearrangement (ie, inversion or translocation) a maternal blood sample (5ml in EDTA) is required.

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".

Postnatal samples
Do not freeze or expose to heat. Can be stored overnight at 4°C if required.

Venous blood - 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 Monday, Tuesday or Friday morning ONLY. Please take this into consideration when sending blood samples to the laboratory for testing. Testing for Fanconi anaemia or ataxia-telangiectasia requires a minimum of 2ml blood in lithium heparin (1ml for neonates).

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. Sending multiple sample types improves success rates. 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) along with a sample of placental membrane from around the cord insertion site.
  • A cord or cardiac blood sample (at least 0.5ml collected into a 1-2ml lithium heparin paediatric tube).

Please read our solid tissue sample requirements and referral criteria for further information.

Gene (DNA) Analysis

Blood samples
Use EDTA tube only. We require at least 5ml for adults and children, at least 1ml for neonates. Store at 4°C and send by first-class post.

Mouthwash samples
Use Oragene container only. Advice on how to obtain these is available from the laboratory office.

Other samples
By prior arrangement only. Please contact the laboratory for more details.

Biochemical Genetics Analysis

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

  • Blood - use EDTA or lithium heparin tube, depending on test.
  • Plasma
  • Urine
  • Liver
  • Amniotic fluid
  • Chorionic villi
  • Cerebrospinal fluid
  • Cultured skin fibroblasts
  • Cultured amniotic fluid cells
  • Cultured chorionic villi
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