Whole Exome Clinical Reporting

A scientist wearing blue gloves and a white lab coat is using a pipette to transfer liquid into small test tubes arranged in a rack, in a well-lit laboratory environment.

Our easy to interpret reports can be a beneficial tool towards identifying undiagnosed disease, or disease risks, that may be of genetic origin.

Free Consultation

What is Whole Exome Clinical Reporting?

Whole Exome Sequencing uses Next Generation Sequencing methodology to provide targeted sequence information from the coding regions of the genome.

While the exome is roughly 2% of the whole genome, it is estimated that approximately 85% of disease-causing variants can be found within these protein-coding regions. Whole exome sequencing allows for a more focused and cost-effective approach in identifying genetic variants.

Sequencing of the Whole Exome or Isolating Specific Genes

We are able to test the whole exome, or specific genes depending on what you’re looking for. We offer the following tests:

  • 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)

Whole Exome Sequencing Benefits

  • By testing certain genes, or all genes, 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)

Free Consultation | (508) 443-1428

Our Expertise

We are only partnered with laboratories that hold the highest accreditations, licesnes, and authorizations in genetic testing.

The clinical team for our exome reporting branch includes clinical geneticists and genetic counselors. Plus, our dedicated support team will always be here to answer any questions you may have.

Custom reports are also available upon request. Inquire with our sales team for more information.

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CAP Accredited

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CLIA Accredited

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AABB Accredited

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NYS DoH Authorized

CPDH Licensed

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