Whole Exome Sequencing | WES

$1,500.00

The Whole Exome is the most common genetic test used to identify variants in a person’s genetic data that may be associated with a disease or developmental process.  With the use of Next-Generation Sequencing technology, the technology exists for rapid and cost-effective genetic testing.

What is Whole Exome Sequencing (WES)?

The Exome is the part of an individual’s genetic information that codes for proteins. The Whole Exome is the most common genetic test used to identify variants in a person’s genetic data that may be associated with a disease or developmental process. With the use of Next-Generation Sequencing technology, the technology exists for rapid and cost-effective genetic testing.

Whole Exome Sequencing (WES) looks at the sequence for about 19000 genes that encode for proteins. WES is commonly used to evaluate multiple genes, gene pathways or to identify variants that may be associated with a disease process.

Who Should get Whole Exome Sequencing (WES) Testing?

  • WES is an important diagnostic tool for patients that have a complex phenotype (multiple symptoms) or a disease process that is not easily identified.
  • WES testing can also be used when a previous more limited genetic test did not provide the necessary answers.
  • WES testing is often used when there is a strong family history that strongly suggests a genetic cause for the disease
  • WES testing is often the first-line testing for children and adults with neurodevelopmental disorders:
    • Autism Spectrum Disorders
    • Intellectual disability
    • Developmental delay
    • Congenital anomalies
  • WES Testing is recommended if the symptoms are complex and not specific for a single disease process.
  • WES testing is indicated if there is an indication of chromosomal abnormalities including deletions or duplications.
  • WES testing is indicated in the case of possible mitochondrial disease.
  • WES testing is indicated if there are severe malformations or critical health issues in the newborn or childhood period.

We obtain your medical records to better establish the phenotype (the disease manifestations).  Unlike other labs that use a limited phenotype, having more robust clinical data is key to our bioinformatic pipeline.

  • We can classify variants based on prioritization and association with phenotypes.
  • Variants are investigated across 50 + biomedical data sources including a deep-dive into the medical literature to establish novel disease associations.
  • Access to over 750000 individual genetic bio-database allows for better variant to disease association identification.
  • ACMG / AMP Variant Implementation Guidelines – The American College of Medical Genetics and Genomics and the Association for Molecular Pathology established criteria to for variant interpretation.
  • Context classification of inheritance models
  • Variant Frequency, Clinical Significance and Damage effect predictions considered in report analysis.
  • In-Silico predictive algorithms to determine the effect of sequence variants.

Sample Type

  • Buccal Swab

  • Whole Blood (EDTA or Lavender Tube)

Turn Around Time

Approximately 4 weeks

Features

  • ai Driven bioinformatics pipeline analysis of variants
  • Depth of coverage > 100X
  • 8000 disease associated genes
  • 99% of clinically relevant variants
  • Specificity >99.9% for all reported variants

Shipping

A test kit can be shipped to your home within 1-2 business days

Insurance Billing

  1. We require a Physicians Order
  2. We will require pre-authorization for Genetic Testing.  We can assist in this process
  3. A Medicare Advance Beneficiary Notice Form may be required for Medicare patients

Informed Consent

Informed Consent for Genetic Testing is Required.  See our Forms Page

FAQs

1. What is Clinical Exome / Whole Exome Sequencing?

Clinical Exome or Whole Exome Sequencing (WES) is a cutting-edge genetic testing technique that sequences the entire coding region of an individual’s genome. It focuses on the exons, which are the parts of the genome that code for proteins and are most likely to contain mutations that cause genetic disorders.

2. How can Clinical Exome Sequencing help in medical diagnosis?

Clinical Exome Sequencing can identify genetic variations linked to a wide range of inherited diseases. It’s particularly useful in diagnosing rare genetic disorders, understanding complex conditions, and in cases where traditional diagnostic methods have been inconclusive.

3. Is Clinical Exome Sequencing different from Whole Genome Sequencing?

Yes, while Whole Genome Sequencing analyzes the entire genome, including non-coding regions, Clinical Exome Sequencing focuses specifically on the exons. This makes WES more targeted and cost-effective for identifying mutations that are most likely to affect health.

4. Who should consider Clinical Exome Sequencing?

Individuals with undiagnosed genetic disorders, those with a family history of genetic diseases, and parents of children with unexplained developmental delays or congenital anomalies are ideal candidates for Clinical Exome Sequencing.

5. What kind of conditions can be detected with Whole Exome Sequencing?

WES can detect a variety of genetic conditions, including but not limited to, hereditary cancers, metabolic disorders, cardiovascular diseases, and rare pediatric syndromes.

6. How accurate is Clinical Exome Sequencing?

Clinical Exome Sequencing is highly accurate in identifying genetic variants within exons. However, the interpretation of these variants in the context of specific diseases requires expert analysis.

7. How long does it take to get results from Exome Sequencing?

The turnaround time for Exome Sequencing results can vary but typically ranges from a few weeks to a couple of months, depending on the complexity of the analysis.

8. Is Clinical Exome Sequencing covered by insurance?

Coverage for Clinical Exome Sequencing varies depending on the insurance plan and the indication for testing. It’s advisable to check with your insurance provider for specific coverage details.

9. Can Clinical Exome Sequencing be used for prenatal testing?

Yes, WES can be used for prenatal testing in certain scenarios, especially when there’s a high risk of genetic abnormalities.

10. How does Whole Exome Sequencing contribute to personalized medicine?

Whole Exome Sequencing provides comprehensive genetic information that can guide personalized treatment plans, inform medication choices, and predict disease risks, ushering in a new era of personalized medicine.

 

Schedule Appointment

Appointments

Locally in Central Florida:

Go to Patient Portal Page   1. Create Account. 2. Go to New Order and Schedule

Applied InGENuity Diagnostics Laboratory. Located at 7040 Lake Ellenor Dr, Orlando, FL 32809
Applied InGENuity Diagnostics Laboratory. Located at 7040 Lake Ellenor Dr, Orlando, FL 32809

 

NOT LOCAL

  1. Please wait 24 hours for us to place your order
  2. Go to any Quest Patient Service Center

 

 

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