Genetic testing includes:
- Gene testing: DNA sequencing is done to identify mutations in genes which may cause or increase risk of a genetic disorder. Gene testing is basically of 4 types:
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- Single gene testing– This is done when a known genetic mutation runs in the family. In this test, only one gene is assessed. It is performed if you or your child exhibit symptoms of single gene disorder like Sickle Cell disease and Duchene muscular dystrophy.
- Panel testing– This form of gene testing analyses a number of genes at one go. This test is done to assess risk of conditions like epilepsy, short stature, and low muscle tone.
- Exome / genome sequencing– Exome sequencing is done to evaluate the genes responsible for a particular medical condition (clinical exome). Genomic sequencing is done to assess the entire DNA of a person. It is the largest genetic test.
- Targeted single variant testing– Single variant testing identifies changes in specific variant of one gene. This specific variant may be responsible for causing a genetic disorder. Targeted variant testing acts as a confirmatory test for identifying the disease-causing genes.
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- Chromosomal testing: These are genetic tests that specifically assesses the changes in the chromosome, throughout its length. Changes such as having an extra copy of chromosome may indicate genetic anomaly.
- Biochemical testing for proteins: Any changes in the amount or activity of proteins (enzymes) made by the genes can be detected through biochemical genetic tests. Abnormalities in these protein levels may indicate a genetic disorder.
