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Whole Exome Sequencing

Whole exome sequencing (WES) is a powerful genomic technique that focuses on sequencing the protein-coding regions of genes in a genome, known as the exome.
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Whole Genome Sequencing

Whole genome sequencing (WGS) is a comprehensive method that involves determining the complete DNA sequence of an organism’s genome at a single time.
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Single Gene & Segregation Analysis

Single gene tests look for any genetic changes in one gene. Then a Segregation analysis is performed which a statistical method to determine if a trait, continuous or binary, has a transmission pattern in pedigrees that is consistent with Mendelian segregation.
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Array CGH

Array comparative genomic hybridization (Array CGH) is an effective tool for examining an entire genome for regions exhibiting DNA gains and losses.
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Karyotyping

Karyotyping is a procedure that allows doctors to examine a person's set of chromosomes to determine whether there are any abnormalities or structural problems within the chromosomes. It involves arranging and analysing the chromosomes from a cell sample to create a visual representation of the chromosome complement, known as a karyogram. Karyotyping is used to detect genetic disorders and can also be used to determine the biological sex of an individual.
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