U.S. flag

An official website of the United States government

GTR Home > Tests > NGS panel - dementia/ALS

Overview

Test name

Help

NGS panel - dementia/ALS (LONA-FTD)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Screening

Condition

Help

Click Indication tab for more information.

How to order

Help

Using our website
Order URL Help: http://www.amsterdamgenomedx.com/

Specimen source

Cell culture
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
SMutation scanning of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

Not provided

Testing strategy

Help

Targeted Next-Generation sequencing and CNV analysis 000 Using our website

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • CCCDTD, 2020
    Recommendations of the 5th Canadian Consensus Conference on the diagnosis and treatment of dementia
  • CCCDTD, 2014
    Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. (See 2020 Update)
  • ACMG/NSGC, 2011
    Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.
  • EFNS, 2010
    EFNS guidelines for the diagnosis and management of Alzheimer's disease.
  • AHRQ, 2010
    Preventing Alzheimer's disease and cognitive decline. (ARCHIVED)

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.