Conventional chromosome karyotype

Conventional cytogenetic analysis involves microscopic examination and screening of the whole genome at the cellular level to detect large genomic changes and rearrangements. These changes usually involve gain, loss or rearrangement of a whole chromosome, or large part of a chromosome, containing many genes, and therefore may result in a clinical syndrome or may be prognostic or diagnostic indicators in malignant tissues. Conventional karyotype is also the investigation of choice for detecting genetic rearrangements predisposing to infertility or recurrent miscarriage.

In a conventional cytogenetic karyotype the cells are cultured, therefore tissue viability is important. Metaphase spreads of chromosomes are prepared on slides and are examined by using a light microscope. This test is useful in the diagnosis of balanced chromosome rearrangements, whole chromosome or large segments of deletion and duplication.

 

Test Conventional karyotype
Genes  Whole genome – low resolution
Disease  Suspected chromosomal abnormality
Method  Light microscope
Notes  Clinical notes indicating the condition that is being investigated is required.
Specimen  Neonate: (<12 mths): 1-2ml Lithium heparin
 Paediatric: 1-2ml Lithium heparin
 Adults: 5 ml Lithium heparin
 Prenatal: By arrangement with laboratory
 Haem-oncology: By arrangement with laboratory
Turn Around Time  Routine: 18 working days
 Urgent: 5 working days
Shipping  TBA
Required Documents

 Standard physician test tequest form

Price  Medicare rebate available