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GTR Home > Tests > Syndromic Autism NGS Panel

Overview

Test name

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Syndromic Autism NGS Panel

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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Order URL Help: https://www.ggc.org/test-finder-item/syndromic-autism-sequencing-panel

Specimen source

Cord blood
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
Saliva
Skin

Methodology

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Molecular Genetics
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

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • NCCN, 2014
    Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.
  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • ISCA, 2010
    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
  • ACMG, 2008
    Statement on guidance for genetic counseling in advanced paternal age
  • ACMG, 2008
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders (See 2013 Update)
  • Retired; ACMG, 2005
    Retired. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

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