GTR Home > Tests > Exome PLUS Proteinuria/FSGS & Hematuria

Overview

Test order codeHelp: lmNPH-pnlC_L

Test name

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Exome PLUS Proteinuria/FSGS & Hematuria

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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29 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)

Summary of what is tested

32 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

Testing strategy

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Exome sequence is generated from extracted genomic DNA that is fragmented, barcoded, and subjected to solution phase hybridization with an enhanced Agilent SureSelect Clinical Research Exome probe set. Sequencing is performed on the Illumina HiSeq 2500 platform (rapid mode). Reads are aligned to the NCBI reference sequence (GRCh37), using the Burrows-Wheeler Aligner (BWA), and variant calls are made using the Genomic Analysis Tool Kit (GATK). Variants are called across all regions achieving at least 20X coverage and bases with insufficient coverage are not analyzed. Data is filtered based upon automated annotations and case-specific measures, including suspected inheritance patterns and clinical features where appropriate. All reported variants are confirmed via an orthogonal method.

How to order

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Order URL Help: http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/Tests/ExomePLUS.aspx

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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.

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