Cytogenetic blood testing refers to chromosomal analysis of blood or bone marrow to look for specific gene mutations in certain leukaemias (cancers of the blood-forming cells), which may impact on treatment possibilities and prognosis.

How is cytogenetic testing performed?

Cytogenetic blood testing is a blood test. It may take several days or even weeks for a result, depending on the exact testing required.

When would you need cytogenetic testing?

Cytogenetic testing can be performed on blood, bone marrow, tumour tissue, or many other types of body fluids or tissues. The test is used to accurately characterise genetic material, and this has two main categories of use:

• Constitutional karyotyping refers to the detailing of an individuals genetic make-up, for example to determine whether they have a genetic or chromosomal condition
• Neoplastic cytogenetic analysis refers to the testing of cancer cells to determine their exact genetic composition, which may guide the diagnosis or even help to predict which targetted treatments may be more successful

Cytogenetic blood test results explained

Cytogenetic analysis looks for specific genetic or chromosomal abnormalities or disease markers. The results need to be interpreted by a professional who is familiar with the field in question, for example a geneticist or an oncologist.

Related specialists

• General Practitioner (GP)
• Paediatrician
• Geneticist
• Oncologist
• Haematologist
• Colorectal Surgeon
• General Surgeon
• Palliative Care Physician

Related procedures

• Blood Test (venesection)
• Bone Marrow Biopsy
• Tissue Biopsy

Related tests

• Full Blood Count
• Urea & Electrolytes
• Liver Function Tests
• Chest X-Ray (CXR)
• Barium Enema
• Bronchoscopy
• Colonoscopy
• Mammogram
• CT Scan
• MRI
• Ultrasound

Also known as

• Cytogenetics
• Constitutional Karyotype
• Neoplastic Cytogenetics
• Chromosomal testing
• DNA analysis

Links

• The Centre for Genetics Education
• Cancer Council Australia

This article is for informational purposes only and should not be taken as medical advice. If in doubt, HealthEngine recommends consulting with a registered health practitioner.