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Sample Specifications

Below will highlight what you must send off for the various samples that are taken.

Samples Requested

Prenatal Diagnosis by:

  • Amniocentesis - Please Send - 15-20 ml Amniotic Fluid in a sterile plastic container
  • Chorionic Villus Sampling - Please Send -
    Cytogenetics Only - 5-10 mg Villus tissue in culture media
    Cytogenetics & Molecular - 15mg Villus tissue in culture media
    Biochemical referrals - >20 mg Villus tissue in culture media
    (N.B. Culture media is available from the Cytogenetics Laboratory)
  • Fetal Blood - Please Send - 1-2 ml of blood in a lithium heparin container

  • Peripheral Blood chromosome Analysis - Please Send -
    Child 1-5 ml blood in lithium heparin container, or
    Adult 5-10 ml blood in lithium heparin container
  • Bone Marrow leukaemia analysis - Please Send - 1-2 ml of aspirated bone marrow in culture media (available from the Cytogenetics Laboratory)

Solid Tissue (Fetal, Placenta or RPC) culture

Solid tissue samples must be sent in transport medium (available from the Cytogenetics Laboratory). A needle punch biopsy is sufficient from live patients. Below gives sampling details for fetal referrals.

Referral Type

Stillborn / IUD (within 24hrs of event).

Tissue Required

At least one of:

  • Cord blood in lithium heparin
  • Cardiac Blood in lithium heparin
  • Full-depth skin biopsy and muscle
    PLUS Placental tissue from cord insertion site with membranes attached

Stillborn / IUD (> 24hrs of event).

Tissue Required

Placental tissue from Cord insertion site with membranes attached

PLUS Full-depth skin & muscle biopsy, if possible.

TOP for fetal abnormality on Ultrasound scan

Tissue Required

a) 10-20ml Amniotic Fluid.
b) Placental tissue as above.
c) Cord Blood in lithium heparin.
d) Cardiac Blood in lithium heparin.
e) Full-depth Skin & Muscle biopsy.

N.B.The above solid tissue samples should be at least (1cm3) in transport medium.

  • Tumour Culture - Please Send - Representative tissue in transport media (available from the Cytogenetics Laboratory)
  • Fluorescent Insitu Hybridisation Studies - Please Send - Samples as for the relevant tissue above - Please indicate on the referral card which tests are required(Availability)

Please note that to retain viability for culture, all samples should ideally be sent to the laboratory to arrive before 5.00 p.m. on the day of collection. If this is not possible, samples may be stored at +4˚C overnight and forwarded at the earliest convenience.

  • Heavily blood stained amniotic fluid samples are unsuitable for the rapid screening service
  • Clotted blood samples are unsuitable for cytogenetic investigations
  • Blood samples collected into EDTA are unsuitable for the culture and karyotyping service
  • Samples not collected and transported in accordance with the advice presented within these pages are less likely to give successful and timely results

Authorised 23.06.04 (Peter Howard)
Reviewed 08.02.06 (Alan Clark)
Revised 10.11.08 (Alan Clark)


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