P0039
Peripheral Blood Cells: Chromosomes 18, X & Y
Test Details: FISH helps in aneuploidy detection and structural aberration for chromosomes 18, X and Y which account for greater than 90% of chromosomal aberrations. Autosomal monosomies are usually not compatible with life. Trisomy 18 is associated with Edward Syndrome. Sex chromosomal aneuploidies including Turner Syndrome (45,X), Klinefelter Syndrome (47,XXY) can also be detected. Structural chromosome rearrangements arise due to chromosome break with subsequent reunion of the wrong segments of the chromosomes. Genetic counselling to couples is essential to explain the recurrence risk and for planning subsequent pregnancies.
Category
Cytogenetics
Pre-test Information
Clinical history is mandatory.
Report Delivery
4 working days
Gender
All
Organ
Blood
Peripheral Blood Cells: Chromosomes 18, X & Y
5900
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