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Karyotype Test

A karyotype test is a laboratory procedure used to examine the number, size, and shape of chromosomes in a cell sample. This test is particularly useful for detecting chromosomal abnormalities such as aneuploidy (extra or missing chromosomes), translocations, deletions, and duplications. It is commonly used in cases of suspected genetic disorders, infertility, recurrent miscarriages, or congenital abnormalities. Doctors often use karyotyping to diagnose conditions like Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

Cytogenetics

Cytogenetics is the branch of genetics that focuses on the study of chromosomes and their structure, function, and abnormalities. This technique involves staining and analyzing chromosomes under a microscope to identify structural changes, such as inversions, translocations, or deletions. Cytogenetics plays a crucial role in diagnosing genetic conditions, birth defects, and cancers, particularly blood cancers like leukemia, where chromosomal mutations play a significant role in disease progression.

Microarrays

Microarray technology is a high-resolution genetic test that detects copy number variations (CNVs) such as duplications and deletions of DNA segments. It is a powerful tool used in diagnosing developmental disorders, intellectual disabilities, autism spectrum disorders, and certain cancers. By comparing a patient’s DNA sample to a reference genome, microarrays can identify small genetic alterations that may not be visible through traditional karyotyping.

Gene Expression Profiling

Gene expression profiling is a technique that examines which genes are active (turned on) and how much RNA they produce in a particular tissue sample. This information helps researchers and doctors understand how genes contribute to health and disease. It is widely used in cancer research, where abnormal gene expression patterns can indicate tumor development and guide personalized treatment plans. Gene expression profiling also plays a role in drug development and understanding complex genetic disorders.

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Unlock the secrets of your DNA with GeneHealth Pvt. Ltd. Our state-of-the-art Whole Genome Sequencing (WGS) services provide you with a comprehensive understanding of your genetic makeup, empowering you to take control of your health.

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