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GTR Home > Tests > TMA-Complete Genetic Panel (20 genes) (2 Day STAT TAT)

Overview

Test order codeHelp: P1228

Test name

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TMA-Complete Genetic Panel (20 genes) (2 Day STAT TAT)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Order URL Help: https://www.machaondiagnostics.com/panel/tma-complete-genetic-panel/

Specimen source

Buccal swab
Peripheral (whole) blood

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

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Clinical utility

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Establish or confirm diagnosis

Guidance for selecting a drug therapy and/or dose

Clinical validity

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The clinical sensitivity is high, based on sequencing of seven positive samples during the validation process (pathogenic variants were detected in all seven samples). The clinical specificity is >99%, based on sequencing of 21 normal samples during the validation process (no positive reports were generated for normal samples tested).

Citations
  • High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies. - PubMed ID: 26283675

Test services

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  • Custom Sequence Analysis
  • Result interpretation

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.