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.
|Genes||Whole genome – low resolution|
|Disease||Suspected chromosomal abnormality|
|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
Standard physician test tequest form
|Price||Medicare rebate available|