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SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
Research Genetic test
Help
offered by
Cancer Genomic Medicine Translational Research Lab
View lab's test page
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GTR Test Accession: Help GTR000301770.3
INHERITED DISEASECANCERENDOCRINOLOGY ... View more
Last updated in GTR: 2019-03-18
View version history
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Conditions (2): Help
Paragangliomas 4; Carney-Stratakis syndrome
Genes (1): Help
SDHB (1p36.13)
Study description: Help
Analysis of SDHB, SDHC, and SDHD gene mutations in pheochromocytoma …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Patients with at least one pheochromocytoma or paraganglioma, and clinical …
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Study Description
Name: Help
Genetics of Pheochromocytoma and Paraganglioma
Study short name: Help
SDH Study
Protocol number: Help
8458
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Analysis of SDHB, SDHC, and SDHD gene mutations in pheochromocytoma and paraganglioma by mutation scanning and/or deletion analysis.
View citations (2)
  • Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. Neumann HP, et al. JAMA. 2004;292(8):943-51. doi:10.1001/jama.292.8.943. PMID: 15328326.
  • Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. Schiavi F, et al. JAMA. 2005;294(16):2057-63. doi:10.1001/jama.294.16.2057. PMID: 16249420.
Study aims and hypotheses: Help
This is a multi-faceted research study that combines clinical patient information with DNA, RNA, and protein studies of the SDHB, SDHC, and SDHD genes. We are studying the natural history of Hereditary Paraganglioma-Pheochromocytoma Syndrome.
Study type: Help
Not applicable
Offered by: Help
Cancer Genomic Medicine Translational Research Lab
Person responsible for the study: Help
Charis Eng, PhD, MD, FACP, Lab Director
Study contact: Help
Charis Eng, PhD, MD, FACP, Lab Director
Research contact policy: Help
Laboratory can only accept contact from health care providers. Patients may not self-enroll but are welcome to contact us so we may help them identify an appropriate provider to help with this.
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Patients with at least one pheochromocytoma or paraganglioma, and clinical or molecular exclusion of Multiple Endocrine Neoplasia type 2 and von Hippel-Lindau syndrome. We are also interested in enrolling patients with an identified mutation or variant of uncertain significance in SDHB, SDHC, or SDHD.
Consent form: Help
Not provided
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Mutation scanning of the entire coding region
LightScanner; if abnormal, sequencing of region in question
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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