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GTR Home > Tests > Familial Variant Targeted Sequencing

Overview

Test order codeHelp: FMLIS

Test name

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Familial Variant Targeted Sequencing

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment

Condition

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Click Indication tab for more information.

How to order

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Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL Help: https://www.nationwidechildrens.org/specialties/laboratory-services

Specimen source

Amniotic fluid
Cord blood
Cystic hygroma fluid
Fetal blood
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Saliva
Skin

Methodology

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Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

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

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Maternal cell contamination study (MCC), comments
  • Tissue Culture, Order code: TCULT, comments
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.