GTR Home > Tests > Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes)

Overview

Test order codeHelp: lmRESP-pnlDv2_L

Test name

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Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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23 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
VisCap Analysis
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina MiSeq

Summary of what is tested

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

Genes

Clinical validity

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Given the recent launch of this disease area, the detection rate for the Pulmonary Fibrosis - Hermansky-Pudlak Panel remains unknown at this point.

Citations

Not provided

Clinical utility

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Not provided

Testing strategy

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The Pulmonary Fibrosis - Hermansky-Pudlak Panel should be ordered for individuals with a diagnosis or suspected diagnosis of pulmonary fibrosis (including familial pulmonary fibrosis, idiopathic pulmonary fibrosis, Choreoathetosis, hypothyroidism, and neonatal respiratory distress (Brain-lung-thyroid syndrome), surfactant deficiency, familial pulmonary alveolar proteinosis, short telomere spectrum/ dyskeratosis congenital, and/or Hermansky-Pudlak syndrome. This panel will provide comprehensive coverage of the implicated genes and minimize the incidence of variants of unknown significance compared with the PulmoGene panel. We recommend careful consideration when deciding whether to order the full panel or the diease-specific sub-panels. For clinically complex cases where the diagnosis is not clear, the complete multi-disease panel may shorten the “testing odyssey.” However, it should be noted that large multi-disease panels typically come with an increased risk of an inconclusive result, as many genes have not yet been sufficiently interrogated for all included diseases. Disease-specific sub-panels may, therefore, be the better first line test for individuals with clear clinical diagnoses.

How to order

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Order URL Help: http://personalizedmedicine.partners.org/Laboratory-For-Molecular-Medicine/Ordering/Pulmonary-Disease/Pulmonary-Fibrosis-Hermansky-Pudlak-Panel.aspx

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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