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.
Karyotyping is a laboratory technique used
to examine the number, shape, and size of chromosomes in a cell to detect genetic
abnormalities.
Full Gene Sequencing
Full gene sequencing is a method that analyzes
the complete DNA sequence of a gene to identify mutations or variations that may affect its function.
Beta-thalassemia is an inherited blood disorder characterized by reduced or absent production of hemoglobin, leading to anemia and other related
health complications.
Whole genome sequencing (WGS) is a comprehensive method that involves determining the complete DNA sequence of an organism’s genome at a single time.
Single gene tests look for any genetic changesin
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.
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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