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GTR Home > Tests > FirstStepDx PLUS

Overview

Test name

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FirstStepDx PLUS (FSDX)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Prognostic, Recurrence, Therapeutic management

Condition

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Click Indication tab for more information.

How to order

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To order buccal sample collection kits, please call 801-931-6200.
Order URL Help: http://www.lineagen.com/how-to-order/

Specimen source

Buccal swab
Isolated DNA
Peripheral (whole) blood

Methodology

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Cytogenetics
KKaryotyping
Microarray
  • Illumina iScan
  • Illumina Infinium Global Screening Array (custom)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. - PubMed ID: 10953176
  • Clinical genetic testing for patients with autism spectrum disorders. - PubMed ID: 20231187
  • Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. - PubMed ID: 20466091
  • Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement? - PubMed ID: 22089167

Guidance for management

Citations
  • How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay. - PubMed ID: 18344707
  • Chromosomal microarray testing influences medical management. - PubMed ID: 21716121
  • Clinical utility of chromosomal microarray analysis. - PubMed ID: 23071206
  • Chromosomal microarray impacts clinical management. - PubMed ID: 23347240
  • The impact of chromosomal microarray on clinical management: a retrospective analysis. - PubMed ID: 24625444

Clinical validity

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Not provided

Test services

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  • Genetic counseling, comments
  • Insurance preauthorization/appeals assistance

Clinical resources

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

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.