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Genetic Testing: Karyotyping and FISH for Chromosomal Analysis

Karyotyping and FISH are genetic tests used to analyze chromosomes. Karyotyping detects abnormalities in chromosome number, shape, and size, including balanced translocations. FISH is employed when conventional cytogenetics cannot detect specific chromosomal changes. These tests are important for conditions such as congenital defects, infertility, mental retardation, repeated pregnancy loss, and cancers. Sample requirements vary, including peripheral blood, amniotic fluid, chorionic villus, fetal blood, tissue, and bone marrow/leukemic blood.

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