What is Whole Exome Sequencing?  DUO or TRIO includes Parent Sample(s)

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. 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 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 idnetified.
• WES testing can also be used when a previous more limited genetic test did not provide the necessary answers.
• WES testing is also first line 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

DUO: Requires blood samples from a child and the mother TRIO: Requires blood samples from child and both parents

• 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

• contact us via phone or email
• Contact Us Form