GTR Home > Tests > Pheochromocytoma type 4

Overview

Test order codeHelp: 1190

Test name

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Pheochromocytoma type 4

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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

Genes

Clinical validity

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The ability of this particular gene test to accurately and reliably identify or predict the intermediate or final outcomes of the disease is fairly high. Number of mutation were up to now reported as causing mutation for this disease, and more than dozen of them were reported as missense/nonsense type, that can be identified with more than 99,9% specificity using standard sequencing at Centogene. We are also offering deletion/duplication analysis for this gene, designed at Centogene to specially meets the patient`s needs. Gene test for this gene could support precise diagnosis of the disease in majority of affected patients with family history, as well as number of sporadic patients with particular symptomatology.

Citations

Not provided

Clinical utility

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Not provided

How to order

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Order URL Help: https://www.centogene.com/ordering/how-to-order-a-test.html

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Custom Deletion/Duplication Testing
  • Custom mutation-specific/Carrier testing
  • Custom Prenatal Testing

Practice guidelines

  • ES, 2014
    Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
  • ASCO, 2014
    American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
  • KCRNC, 2013
    Canadian guideline on genetic screening for hereditary renal cell cancers.
  • NANETS, 2010
    The NANETS Consensus Guideline for the Diagnosis and Management of Neuroendocrine Tumors: Pheochromocytoma, Paraganglioma & Medullary Thyroid Cancer

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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