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Genomic Unity® 2.0 - singleton
Clinical Genetic Test
Help
offered by
Variantyx, Inc.
View lab's test page
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GTR Test Accession: Help GTR000613389.1
INHERITED DISEASE
Registered in GTR: 2024-09-30
View version history
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Hereditary disease
Analytes (1): Help
whole genome analysis
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Healthcare providers
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Variantyx, Inc.
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
DS001
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Christine Stanley, PhD, FACMG, Medical Director
christine.stanley@variantyx.com
+1 617-209-2090
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Genomic Unity 2.0 can be ordered for patients with suggestive genetics disorder. Test orders are initiated at https://www.variantyx.com/resources/provider-resources/order-forms/. Following submission, a clinical coordinator will get in touch to send a blood sample and facilitate collection of the test requisition and informed consent forms.
Order URL
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Healthcare providers
View citations (1)
  • Genomic Unity® 2.0 is the only whole genome based diagnostic test that combines short and long-read genome sequencing technologies in one clinical report. The test identifies genetic variants that correlate with the patient’s phenotype. Genomic Unity® 2.0 is the most comprehensive genomic test available today. Its single, unified clinical report replaces a battery of tests including: whole genome sequencing (WGS), whole exome sequencing (WES), bisulfite (DNA methylation) sequencing, chromosomal microarray (CMA), multiplex ligation dependent probe amplification (MLPA), and single gene or targeted gene panel testing, as well as PCR and southern blot tests for short tandem repeat expansions.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are categorized as pathogenic, likely pathogenic or a variant of uncertain significance (VUS) utilizing the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines as published by Richards et al 2015.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity, specificity and positive predictive value of the assay is greater than 0.99 for single nucleotide variants. The sensitivity and positive predicted value of small insertions and deletions of fewer than 50 base pairs is greater than 0.95 and 0.92, respectively. The analytical sensitivity for copy number variants reported … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
VUS:
Software used to interpret novel variations Help
Variantyx Genomic Intelligence®

Laboratory's policy on reporting novel variations Help
Test results will only be released to the ordering healthcare provider and additional healthcare provider(s) indicated on the test requisition form.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information
Practice guidelines:
Consumer resources:

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.