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In 2012, Calvin Lapidus became the first patient to undergo exome sequencing at UCLA. He was subsequently diagnosed with a rare genetic condition known as Pitt-Hopkins syndrome, which is most commonly characterized by developmental delays, possible breathing problems, seizures and gastrointestinal problems.
Exome sequencing of a small number of unrelated, affected individuals is a powerful, efficient strategy for identifying the genes underlying rare Mendelian disorders and will likely transform the genetic analysis of monogenic traits.
Not all health insurance companies will pay for the cost of the test. All WES tests will be discussed with your insurance company before testing. You will be responsible for all co-pays and deductibles.
Exome sequencing can broadly improve the diagnosis rate for suspected neurogenetic disorders with clinically heterogeneous phenotypes in both children and adults, leading to benefits in patient care.
Whole-exome sequencing (WES) analyzes protein-coding sections of the genome, while whole-genome sequencing (WGS) analyzes both coding and noncoding regions.
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Evaluating the role of WGS Fragile X syndrome (intellectual disability) Huntingtons disease. Friedreichs ataxia. some forms of amyotrophic lateral sclerosis (ALS) frontal lobe (or frontotemporal) dementia.

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