GTR Home > Tests > Noonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2 Next Generation Sequence Analysis

Overview

Test name

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Noonan Spectrum Panel - PTPN11, RAF1, SOS1, KRAS, BRAF, HRAS, NRAS, CBL, SHOC2, MAP2K1, MAP2K2 Next Generation Sequence Analysis

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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15 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Agilent 2100 Bioanalyzer
  • Agilent SureSelect
  • Applied Biosystems 3730 capillary sequencing instrument
  • Covaris S2 Sonicator
  • Illimuna MiSeq; Agilent 2200 Tapestation; Quibit 2.0 Fluorometer
  • Qiagen QIAcube

Summary of what is tested

11 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form.
Order URL Help: http://www.chop.edu/service/labs-molecular-genetics/specimen-handling.html

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Clinical resources

Practice guidelines

  • ESC, 2014
    2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
  • AAP, 2010
    Noonan syndrome: clinical features, diagnosis, and management guidelines.

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