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Cellbank 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 cellbank 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 cytogenetics lab 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, 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.
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). Testing for Nijmegen
breakage syndrome requires a minimum of 3ml blood in lithium
heparin.
Solid tissue - Do not expose to formalin. Send
in 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).
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; these are available from the molecular genetics lab.
Other samples
By prior arrangement only. Please contact the molecular genetics lab for more
details.
Enzyme (Biochemical) 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
used:
- 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