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GTR Home > Tests > SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Overview

Test name

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SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (SDHC)

Purpose of the test

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Contribute to generalizable knowledge

Condition

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Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
SMutation scanning of the entire coding region
LightScanner; if abnormal, sequencing of region in question
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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Description of study

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Analysis of SDHB, SDHC, and SDHD gene mutations in pheochromocytoma and paraganglioma by mutation scanning and/or deletion analysis.

Researchers

Person responsible for the studyHelpCharis Eng, PhD, MD, FACP, Lab Director
Study contactHelpCharis Eng, PhD, MD, FACP, Lab Director, engc@ccf.org, 216-445-5686 (phone), 216-445-6935 (fax)

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