Genetic Testing : Introduction

Genetic testing plays a pivotal role in modern medicine, offering insights into the genetic underpinnings of various diseases and conditions. This field utilizes a range of testing methodologies to analyze DNA, RNA, proteins, and certain metabolites, aiding in the diagnosis, treatment, and management of genetic disorders.

Overview of Genetic Testing Types

The realm of genetic testing is diverse, encompassing several methods, each tailored to specific needs:

1. Chromosomal Tests: These tests analyze whole chromosomes or long lengths of DNA, identifying large genetic changes such as an extra copy of a chromosome. They are essential for diagnosing disorders like Down syndrome.

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3. Biochemical Genetic Tests: By measuring substance levels in body fluids and tissues, these tests detect abnormalities indicating genetic disorders, particularly those affecting metabolic processes.

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5. Molecular Genetic Tests: Focusing on single genes or short DNA lengths, these tests are adept at identifying specific genetic variations or mutations, aiding in the diagnosis of inherited conditions like cystic fibrosis.

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7. Genomic Sequencing: This advanced method, including whole-exome and whole-genome sequencing, sequences large parts of the genome. It's instrumental in identifying genetic causes of complex conditions, especially when the genetic etiology is unclear.

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9. Carrier Testing: These tests determine if an individual carries a gene...