Karyotyping (chromosome analysis)

Karyotyping involves the microscopic examination of the chromosomes to investigate the total number and structure of the chromosomes. It is also known as chromosome analysis. Cells are obtained from an individual and are viewed during metaphase, a stage in cell division when our chromosomes are condensed. The chromosomes are stained with a dye (Giemsa), resulting in a banding pattern of light and dark stripes, known as G-banding. The patterns are specific, allowing us to identify each chromosome.

This test can detect loss or gain of material in any region of any chromosome as well as both balanced and unbalanced structural rearrangements such as translocations and inversions. As this test examines the chromosomes microscopically, the level of detail is limited by the resolution of the microscope and imbalances of ~ 5 Mb or greater can be detected.

Living cells are required for cell culture to produce the chromosome preparations hence frozen or fixed material cannot be processed.

Abnormal Puberty

Puberty is the period of growth that bridges childhood to adulthood and results in physical and sexual maturity as well as the capacity for reproduction. Significant pathology can result in both advanced ……

Prenatal Diagnosis

There may be unpleasant outcome for the fetus or the mother or both, if the couple had not done the prenatal diagnosis. Congenital anomalies account for 20 to 25% of perinatal deaths. Prenatal ….

Karyotyping

This test can detect loss or gain of material in any region of any chromosome as well as both balanced and unbalanced structural rearrangements such as translocations and inversions.

FISH

For male infertility, screening tool like Sperm FISH is used for counseling couples with male factor infertility. The analysis can also be undertaken as a rapid investigation for whole chromosome …….

Chromosome Abnormalities

Half of the first-trimester miscarriages are caused by fetal chromosome abnormalities diagnosed by conventional techniques. Techniques such as chromosomal comparative genomic ……..

Cytogenetics

Chromosomal abnormalities can happen in any cell in the body when egg and sperm cells are being made, during early fetal development, or after birth. A routine cytogenetic analysis involves ……

Cytogenetics Samples

The availability of molecular tools has expanded the resolution and capability of cytogenetic analysis. The CIMAR cytogenetics facility accepts a variety of samples for karyotyping, FISH as well as ……..

Genetic Disorders

Genetic disorders of the sex chromosome (like disorders of the autosomes) can be either numerical or structural, and can be present in all cells or in a mosaic form. Samples can be referred for a wide ……..

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