P0038
Peripheral Blood Cells: Chromosomes 13, 18, 21, X & Y
Number of Tests | 5 |
Test Included | Chromosome: 13, 18, 21, Sex Chromosome (X & Y) |
Test Details: FISH helps in aneuploidy detection and structural aberration for chromosomes 13, 18, 21, X and Y which account for greater than 90% of chromosomal aberrations. Autosomal monosomies are usually not compatible with life. Autosomal trisomy of chromosomes 13 and 21 are most common trisomy detected in live-births. Trisomy 21 is associated with Down Syndrome and is the single most common known cause of mental retardation. Trisomy 13 is associated with Patau Syndrome. 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.
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Category
Cytogenetics
Pre-test Information
Clinical history is mandatory.
Report Delivery
3 working days
Gender
All
Organ
Multi-Organ
Peripheral Blood Cells: Chromosomes 13, 18, 21, X & Y
11000
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