Whole Exome Clinical Reporting
Easy to interpret Exome Clinical Reports provided by our Clinical Reporting business, myDNA.
Inquire Online
Easy to interpret Exome Clinical Reports provided by our Clinical Reporting business, myDNA.
Enquire OnlineExome reporting can be a beneficial tool towards identifying undiagnosed disease that may be of genetic origin. It can also support the identification of certain disease risks. The myDNA report makes interpreting results easy so that clinicians can deliver meaningful results quicker. The report can be a first-tier test or used if other previous tests, such as traditional blood tests, have failed to identify the cause of disease.
Tests we Provide
- Whole Exome Sequencing
- Renal-Kidney Panel (176 Genes)
- Cardiovascular Panel (175 Genes)
- Congenital Heart Defect Panel (127 Genes)
- Hereditary Cancer Panel (113 Genes)
- Cardiomyopathy Panel (106 Genes)
- Aortopathy & Connective Tissue Disorders Panel (56 Genes)
- Immunodeficieny Panel (Interpretation only) (50 Genes)
- Parkinson Alzheimer Dementia Panel (47 Genes)
- Arrhythmia Panel (40 Genes)
- RASopathies Panel (26 Genes)
- Familial Hypercholesterolemia (6 Genes)
Custom reports are also available upon request. Inquire with our sales team for more information.
Benefits of Whole Exome Clinical Reports:
- Next Generation Sequencing (NGS) technology has become an invaluable method to support diagnosis of rare genetic conditions as well as to optimize an individual’s course of treatment for illness
- The exome is only ~1-2% of the genome but approximately 85% of disease-causing mutations are contained in the exome (coding regions of the genome)1
- Whole Exome Sequencing (WES) allows for the identification of variants in coding region of genes
- Types of variants include SNVs and some copy number variants (CNVs)
Limitations of Whole Exome Clinical Reports:
- The report may not cover all portions of a gene, or certain genes due to sequence characteristics or presence of closely related pseudogenes
- Some deletions or duplications, or changes from repetitive sequences may not be accurately identified by this methodology
Sample Requirements
Gene by Gene will provide buccal (cheek) swab kits with each order.
Each test requires two buccal swabs which are included in each kit. This is the preferred sample collection method.
Gene By Gene will provide return packaging and a pre-paid shipping label.
*Shipping fees may apply to orders outside the United States.
If necessary, Gene by Gene can accept most DNA sample types, including:
- Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples
- Blood: 3-5cc drawn in EDTA (purple-top) tube
Results
Shipping
- For blood samples, please ship at room temperature in an insulated container. IT’S IMPORTANT TO NOTE: DO NOT HEAT OR FREEZE SAMPLE
- For buccal swab please follow shipping information provided
Testing Methodology
We use Twist Bioscience’s Exome 2.0 for for exome capture, specific details for the panel can be found here: https://www.twistbioscience.com/products/ngs/fixed-panels/exome2
- Platform: Illumina NovaSeq 6000
- Results Delivery: Results are delivered via a Secure Data Transfer service which can be provided by a client, providing complete control over data retention policies. Alternatively, Gene by Gene can support clients to set up a Secure Data Transfer
Turnaround Time
10-15 business days
Price
Inquire for pricing
Product Brochure
Submit the adjacent Test Request Form and our laboratory will be in touch to confirm your inquiry.
Frequently Asked Questions
Related Products & Services
References
- Majewski, J., Schwartzentruber, J., Lalonde, E., Montpetit, A. & Jabado, N. What can exome sequencing do for you? J. Med. Genet. 48, 580–589 (2011)