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GTR Home > Tests > NextStepDx PLUS

Overview

Test order codeHelp: 81415, 81416

Test name

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NextStepDx PLUS (NSDX)

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, please call 801-931-6200 to discuss the ordering process or order buccal sample collection kits. The test requisition form can be found on www.lineagen.com/how-to-order
Order URL Help: http://www.lineagen.com

Specimen source

Buccal swab
Isolated DNA
Peripheral (whole) blood

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeqâ„¢2000 system
  • Agilent SureSelect Human All Exon V6

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Lower cost than traditional diagnostic pathways

Citations
  • A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology. - PubMed ID: 28333917
  • Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. - PubMed ID: 28759686
  • Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. - PubMed ID: 29314763

Establish or confirm diagnosis

Citations
  • Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. - PubMed ID: 28759686

Avoidance of invasive testing

Citations
  • Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. - PubMed ID: 28759686

Clinical validity

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Not provided

Test services

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  • Genetic counseling, comments
  • Insurance pre-authorization/appeals assistance

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.