Genetics

Sample requirements and test request card

Genetics laboratories

Request card | Labelling | Consent | Packaging and transport | Sample detailsSample storage

 

 

The laboratory handles a range of sample types which are listed with their specifc requirements below.

 

If testing of other sample types is required, please contact the laboratory.

> Contacts

 

Request card

Samples must be accompanied by a FULLY completed request card including the consent section. The requester’s name and contact details must be legible.

 

Genetics request card (20 KB)

 

Please note that inadequate information on the referral card may cause unnecessary delays in sample processing.



Labelling

All patient samples must be labelled with:

  • name
  • date of birth
  • NHS number / hospital number.

Inappropriately labelled or unlabelled samples will not be accepted.



Consent

All genetic testing requires consent. It is the responsibility of the referring clinician to ensure appropriate consent has been obtained.

 

DNA from all referrals is currently retained for quality assurance purposes and may be used anonymously for the development of new tests unless consent for this is expressly denied.

 

Please note: karyotype or microarray analysis is essentially a whole genome analysis at varying levels of resolution. In a small proportion of referrals this form of analysis may identify unexpected findings with unexpected consequences for the individual tested or his/her family.

 


Packaging and transport

If the sample cannot be sent directly to the laboratory, please store at +4°C and send at the earliest opportunity. Do not freeze samples.

 

Specimen container must be placed in an individual clear, plastic, marsupial transport bag properly sealed at the top to contain potential leakage. The outer packaging for the specimens transported by postal services must be marked with diamond shaped mark UN 3373 and Biological substances, Category B.

 

Packaging and transport guidance (28 KB)

 

For local delivery of samples NOT transported by Royal Mail

Transport to Addenbrooke’s hospital:

Specimen reception in the main pathology block (Biochemistry, level 4)

or
Medical Genetics Laboratories Reception, level 6 ATC building.

 

Transport within Addenbrooke's Hospital:

Pneumatic tube (hospital POD) / Destination code (POD number) 36.

 



Sample details

Blood samples

If only small tubes are available, please place the sample into multiple tubes.

 

Adults: 5 ml blood.


Children: 1 to 5 ml blood.
Samples should be in EDTA anticoagulant tube (pink, red or purple cap).

Pink blood tube Red blood tube Purple blood tube

 

and in lithium heparin anticoagulant (orange or green cap) tube.

Pink blood tube Red blood tube

 

DNA samples

Samples of extracted DNA (50ul DNA at concentration of ~500ng/ul) should be in a leak proof plastic container and sent by first class post.

 

 

Amniotic fluid samples 

10 to 20ml in sterile leak-proof container.

> Contacts

 

 

Chorionic villi samples

10-30mg in sterile tissue transport medium (provided by the laboratory) within leak-proof plastic container.

> Contacts

 

 

Placental biopsy samples

Chorionic villi and placental membranes in sterile tissue transport medium (provided by the laboratory) within leak-proof plastic container.

> Diagram for taking placental tissue biopsy

 

 

Products of conception samples

Place in a sterile leak-proof container.

 

 

Stem cells or other cultured cells

Cultured cells in sterile container or fixed cell suspension in a leak proof container.

 

 

Skin biopsy

4mm2 (minimum 3mm2) sample in sterile tissue transport medium (provided by the laboratory) within leak-proof plastic container.


 

Karyotype analysis / FISH:

Sample type

Sample requirement

Peripheral blood

Lithium heparin, 3-5ml

Amniotic fluid

Sterile, leak-proof plastic container; 10-20ml

 

 

Chorionic villus (CVS)

Leak-proof container with

Placental biopsy

Sterile tissue transport media

Products of conception

Evacuation container

Stem cells

Fixed cell suspension 

 

 

Microarray testing / PCR:

Sample type

Sample requirements

Peripheral blood

EDTA, 3ml

Other tissues

Fresh in a leak-proof container

DNA

1-2mg @ >250ng/ml concentration

 

 

 

Muscle biopsy, paraffin blocks, Guthrie cards, saliva, mouthwash or buccal smears

By arrangement with laboratory.

> Contacts

 

Cultured cells

Harvesting of solid tissue cultures (17 KB)

 

 

Sample storage

Surplus diagnostic material will be stored in accordance with the relevant laboratory policies, unless consent for storage has been expressly denied.

 

In summary:

  • DNA is stored for all microarray referrals to facilitate further diagnostic testing, for quality assurance purposes and service development.
  • Surplus cultured cells for karyotype testing are only stored in following circumstances:
    • Storage is requested by referring clinician
    • Further diagnostic testing is anticipated.

Types of stored diagnostic material

Length of storage

Cells: Cultured

10 years

Cells: Fixed

10 years

DNA

30 years

 

Last updated: Wednesday 28 September 2011

 

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