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Cytogenetics suitable sample types

Prenatal diagnosis

 

Prenatal diagnosis
Sampling method Sample required
Amniocentesis 15-20 ml Amniotic Fluid in a sterile plastic container
Chorionic Villus Sampling

Cytogenetics Only - 7-10mg Villus tissue in culture media

Cytogenetics & Molecular - 10-15mg Villus tissue in culture media

Biochemical referrals - >20mg Villus tissue in culture media

(N.B. Culture media is available from the Cytogenetics Laboratory)

Fetal Blood 1-2 ml of blood in a lithium heparin container

 

 

Postnatal diagnosis
Analysis type Sample required

Peripheral blood Chromosome analysis

Child 1-5ml blood in lithium heparin container, or Adult 5-10ml blood in lithium heparin container

Bone Marrow Leukaemia Analysis

1-2ml of aspirated bone marrow in culture media (available from the Cytogenetics Laboratory)

Microarray Analysis

Neonate:
1-2 ml blood in an EDTA container
And
1-5ml blood in a lithium heparin container.

Adult/Child:
1-5ml blood in an EDTA container
And
1-5ml blood in a lithium heparin container.

 

 

Fetal referral type Tissue required
Stillborn/IUD (within 24hrs of event)

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)

Placental tissue from Cord insertion site with membranes attached PLUS Full-depth skin & muscle biopsy*, if possible
TOP for fetal abnormality on Ultrasound scan 10-20ml Amniotic Fluid
Placental tissue as above
Cord Blood in lithium heparin
Cardiac Blood in lithium heparin
Full-depth Skin & Muscle biopsy*
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

 

*Solid tissue samples (Fetal, Placenta or RPC) must be sent in a transport medium (available from the Cytogenetics Laboratory). A needle punch biopsy is sufficient from live patients. The above solid tissue samples should be at least (1cm3) in transport medium.

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.

Unsuitable samples

  • 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

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