U.S. flag

An official website of the United States government

GTR Home > Tests > Inheritest NGS, Comprehensive

Overview

Test name

Help

Inheritest NGS, Comprehensive

Purpose of the test

Help

This is a clinical test intended for Help: Screening

Condition

Help

Click Indication tab for more information.

How to order

Help

Not provided

Specimen source

Peripheral (whole) blood

Methodology

Help
Molecular Genetics
TTargeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

Not provided

Testing strategy

Help

For Fragile X, reflex AGG analysis will be automatically performed and reported in premutation carriers with 55-90 CGG repeats. For individuals with two copies of the SMN1 gene, testing for the presence or absence of the variant c.*3+80T>G will be performed to help evaluate the risk of being a silent carrier (2+0). 000 For Fragile X, reflex AGG analysis will be automatically performed and reported in premutation carriers with 55-90 CGG repeats. For individuals with two copies of the SMN1 gene, testing for the presence or absence of the variant c.*3+80T>G will be performed to help evaluate the risk of being a silent carrier (2+0).

Practice guidelines

  • CDC DMD Care Considerations Working Group, 2018
    Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management
  • CDC DMD Care Considerations Working Group, 2018
    Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management
  • CDC DMD Care Considerations Working Group, 2018
    Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan
  • AAN, 2022
    Reaffirmed, 2022: Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology
  • Orphanet, 2013
    Orphanet, Duchenne muscular dystrophy, 2013
  • CDC Respiratory Panel, 2010
    The respiratory management of patients with duchenne muscular dystrophy: a DMD care considerations working group specialty article.
  • CDC DMD Care Considerations Working Group, 2010
    Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. (See 2018 Update)
  • CDC DMD Care Considerations Working Group, 2010
    Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. (See 2018 Update)
  • DMD Management and Anesthesia - ACCP, 2007
    American College of Chest Physicians consensus statement on the respiratory and related management of patients with Duchenne muscular dystrophy undergoing anesthesia or sedation.
  • AAP, 2005
    Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy.
  • Updated, AAN/CNS, 2005
    Updated, Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

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.