Turnaround Time

21-25 business days

Price

Inquire for pricing

Testing completed by

Gene by Gene

Requirements

| Sample Requirements

myDNA will provide buccal (cheek) swab kits with each order.

Each test requires one buccal swab which are included in each kit. This is the preferred sample collection method.

myDNA will provide return packaging and a pre-paid shipping label.
*Shipping fees will apply.

If necessary, myDNA 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

Shipping

| 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

Methodology

| 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, myDNA can support clients to set up a Secure Data Transfer

About Whole Exome Clinical Reporting

Exome 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

Cardiovascular Panel

  • Cardiovascular (174 Genes)
  • Congenital Heart Defect (127 Genes)
  • Cardiomyopathy (106 Genes)
  • Aortopathy & Connective Tissue Disorders (56 Genes)
  • Arrhythmia (40 Genes)
  • Familial Hypercholesterolemia (6 Genes)

Oncology Panel

  • Hereditary Cancer (113 Genes)

Other Panels

  • Renal-Kidney (176 Genes)
  • Immunodeficiency (Interpretation only) (50 Genes)
  • Parkinson Alzheimer Dementia (47 Genes)
  • RASopathies (26 Genes)
  • Proactive Genetic Health Screen (311 Genes)

Custom reports are also available upon request. Enquire 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

Inquire about Whole Exome Clinical Testing & Reporting Services Online

Submit the adjacent Test Request Form and our laboratory will be in touch to confirm your inquiry.

Note: For individuals interested in these services, please speak to your healthcare professional.

References
  1. Majewski, J., Schwartzentruber, J., Lalonde, E., Montpetit, A. & Jabado, N. What can exome sequencing do for you? J. Med. Genet. 48, 580–589 (2011)
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