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Whole Exome Sequencing, Varies - Mayo Clinic Laboratories

Whole Exome Sequencing, Varies - Mayo Clinic Laboratories 2025

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The document outlines the procedures and requirements for ordering Exome Sequencing tests at Knight Diagnostic Laboratories, specifically for family trios (patient and both parents). It details necessary forms, specimen types, billing options, and the clinical information needed. The document also explains the purpose of Exome Sequencing, its benefits, limitations, potential consequences, privacy concerns regarding genetic information, and the process for reporting results. Additionally, it includes consent forms for optional results related to medically actionable genes.

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How much does whole exome sequencing cost?

Pioneering a new regulatory pathway Helix is proud to have collaborated with the FDA to pioneer a new regulatory pathway for the first-ever FDA authorized whole exome sequencing platform and its first application.

Is whole exome sequencing expensive?

The cost to generate a whole-exome sequence was generally below $1,000.

What type of disease would be identified by exome sequencing?

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.

Is WGS more expensive than WES?

However, one of the major disadvantages of WGS is that it is more expensive than WES due to the larger amount of data generated. WGS also requires more computational resources and expertise to analyze the data.

Does insurance cover whole exome sequencing?

WES is a new and expensive genetic test. 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.

What is the price of whole exome sequencing?

The Whole exome sequencing test cost is INR 21999. You can book your test with the Redcliffe labs app to get the best discounts on diagnostic tests.

What are the drawbacks of whole exome sequencing?

WES has low sensitivity for structural variations, so detection is limited1. Though some CNVs, including indels and duplications, can be detected by WES, the technical limitation means that others are likely missed4. For example, Huntingtons is a disease caused by an SV and diagnosed based on CAG repeat expansion.

Whole Exome Sequencing, Varies - Mayo Clinic Laboratories 2025

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