Hereditary Diseases

Clinical Interpretation of Germline Variations

Germline variation refers to a gene change in a reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring. A variant contained within the germline can be passed from parent to offspring, and is, therefore, hereditary. Together with our partners, we provide computational pipeline services to analyze specific disease gene panels, whole exome and genome sequencing data to help inform healthcare decisions.

Leveraging deep domain knowledge, years of hands-on experience in clinical interpretation, our revolutionary genomic interpretation platform, we offer turn-key clinical interpretation services with unparalleled accuracy, quick turn-around times and affordable prices.

Our end-to-end genomic data analysis and interpretation pipeline has been clinically validated for patient diagnosis and returns results with a high degree of both specificity and sensitivity. Our interpretation services have been successfully implemented by a number of CAP /CLIA-certified genetic laboratories who specialize in inherited cancer, carrier screening, pharmacogenomics, and a wide range of genetic diseases.

Customers can choose to have clinical reports reviewed and signed by a U.S. Board-certified Medical Geneticist or receive reports that are verified but unsigned.

WGS and WES

Whole genome sequencing (WGS) and whole exome sequencing (WES) tests offer the most powerful and versatile testing solutions for rare disease diagnosis and many other complex conditions. Our extensive expertise and established pipelines in interpreting WGS and WES data means customers will receive accurate clinical diagnoses with high diagnostic yields within two weeks instead of months.

Hereditary Cancer Risk

We provide comprehensive risk assessment for many types of hereditary cancers, including breast cancer, colorectal cancer, endocrine cancer, gastrointestinal cancer, leukemia, lung cancer, melanoma and skin Cancer, pancreatic cancer, renal cancer, neurofibromatosis, tuberous sclerosis, and xeroderma pigmentosum. The turn-around-time is one week.

Carrier Screening

We provide a number of options for the interpretation and reporting of carrier screening tests including tests that determine the carrier status for rare genetic disorders and thousands of other hereditary medical conditions. The turn-around-time is one week.

Gene Panel Tests

We offer interpretation and reporting services for a wide-range of gene panel Tests for genetic predispositions from A to Z. Test types include cardiology, dermatology, ear-nose-throat, endocrinology, gastroenterology, hematology, immunology, malformations, metabolic disorders, nephrology, neurology, ophthalmology, pulmonology, pharmacogenomics, and many others. The turn-around-time is one week.

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