Karyotyping is the microscopic analysis of the complete set of chromosomes in a cell. Cells are grown in culture, arrested in metaphase and stained with G-banding to produce a characteristic pattern of light and dark bands on each chromosome. It remains the standard test for detecting balanced chromosomal rearrangements.
Diagnostic test in pregnancy. On fetal cells obtained by chorionic villus sampling or amniocentesis, this is a diagnostic test rather than a screening test.
Cells are cultured, harvested at metaphase and G-banded. A minimum of 20 metaphases is counted and analysed at a band resolution of 400 to 550 bands per haploid set, depending on sample type. Results are reported according to the International System for Human Cytogenomic Nomenclature (ISCN).
Each report is prepared by a qualified scientist, reviewed independently and signed out by an authorised specialist. Reports state the test performed, the regions analysed, the result and its interpretation, recommendations for follow-up and the limitations of the test.
Report: A signed report is sent to the referring doctor.
A genetic counsellor can explain what this test can and cannot show before it is done, and what the result means once it is available.
Prices depend on the test and clinical situation. Ask our team for current price information.
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