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CHROMOSOMAL STUDIES

WHAT IS CHROMOSOME ANALYSIS?

Chromosome analysis determines the number of chromosomes in the cells and whether there are any pieces of chromosomal material that are missing, extra, or rearranged. Any variation from the normal chromosome number and rearrangement can have implications for a person's fertility and the risk for having a baby with birth defects. The following chromosomal conditions can be detected by karyotype analysis. It is also known as karyotyping. Chromosome analysis can be done on blood, and bone marrow aspirate.

WHAT IS THE PURPOSE OF THIS TEST? 

Chromosome analysis is used to determine whether:-

  • The Chromosomes of an adult have an abnormality that can be passed on to a child.
  • A chromosome detect is preventing a woman from becoming prengant or causing her to miscarry.
  • A chromosome defect is present in a fetus or infant.
  • Chromosomal problems may have caused a fetus to be stillborn.
  • The cause of a birth defect or disability is a chromosomal defect.

WHAT IS REQUIRED TO PERFORM THIS TEST?

Appointment and request form.

1. Appointments are request before the sample can be sent to the lab. Appointment can be made at Human Genome Center Laboratory, extension at 6789.

2. Urgent samples are sent without appointment, but need to get consultation from the Director of Human Genome Center, extention at 6789.

3. The culture procedures were made every Sunday morning at 11.30 am to 12.00 am.

4. All request to be accompanied with the request form signed by the respective consultant.

5. Form  not completed will be returned back.

6. Sample that are clotted, haemolyse, and wrong container or anticoagulant will be rejected and informmed to the ward or clinic immediately.

BLOOD COLLECTION

The container (sodium heparin) is used to collect the blood from the patient:

  • Infant/ baby about 3 ml blood.
  • Adult about 5 ml blood.

Sample should be obtained in sterile condition and send to laboratory immmediately with the complete form. The sample should arrive to the laboratory by 11.30 am.

BONE MARROW COLLECTION

At least 2 ml bone marrow aspirate is optimal for Cytogenetic analysis.

  •  Cytogenetic laboratory technologist prepares the bone marrow transport media and will provide these tubes upon request. The media tubes should be kept frozen. Dispense about 2 ml of bone marrow aspirate into a thawed media tube and mix well.
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