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F0052
FISH (7 Probes - 13,16,18,21,22, X,Y)
Number of Tests 7
Test Included 13,16,18,21,22, X, Y
Test Details: This panel helps in aneuploidy detection for chromosomes 13, 16, 18, 21 and 22 which accounts 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. Changes in the number or structure of chromosome 16 can have a variety of effects such as intellectual disability, delayed growth and development, distinctive facial features, weak muscle tone (hypotonia), heart defects. 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. DiGeorge Syndrome caused by the deletion of a segment of q arm of chromosome 22, leading to poor development of several body systems. Trisomy 22 is a frequent cause of spontaneous abortion. Sex chromosomal aberrations such as Klinefelter Syndrome (47,XXY) and Turner Syndrome (45,X) can also be detected using FISH.
Category
Cytogenetics
Pre-test Information
Clinical history is mandatory.
Report Delivery
5 working days
Gender
All
Organ
Multi-Organ
FISH (7 Probes - 13,16,18,21,22, X,Y)
7000
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