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GTR Home > Tests > Genomic Unity Exome Analysis - Proband (includes STR analysis of 26 loci)

Overview

Test order codeHelp: CP002

Test name

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Genomic Unity Exome Analysis - Proband (includes STR analysis of 26 loci)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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Genomic UnityⓇ Exome Analysis can be ordered for the proband alone, or with additional family members. 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 or saliva sample collection kit if required and facilitate collection of the test requisition and informed consent forms.
Order URL Help: https://www.variantyx.com/resources/provider-resources/order-forms/

Specimen source

Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
XMutation scanning of select exons
Tandem repeat expansion analysis
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Not provided

Clinical validity

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Not provided

Testing strategy

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When results are not positive, there is an option to reflex up to Genomic UnityⓇ Whole Genome Analysis. 000 Genomic UnityⓇ Exome Analysis can be ordered for the proband alone, or with additional family members. 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 or saliva sample collection kit if required and facilitate collection of the test requisition and informed consent forms.

Clinical resources

Practice guidelines

  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • ASHG/ACMG, 2015
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
  • ACMG, 2015
    Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics.
  • ACMG, 2015
    Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.