Hereditary Paraganglioma (SDHD-PGL1 Known Mutation)
- Synonyms: Hereditary Paraganglioma-Pheochromocytoma Syndrome
- LIS Mnemonic: MBSDHDPT
Collect
Collect whole blood in a purple top (EDTA) tube.
Volume Required
5 ml
Minimum Required
3 ml
Transport
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Stability
Whole blood can be refrigerated until shipment.
Unacceptable conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Specimen Handling
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Days Performed
Mon - Fri 9:00am to 4:00pm
Reported
2-3 weeks
CPT
81403
Disease Information
Clinical Features:
Paraganglioma syndrome includes inherited head and neck paragangliomas
(HNPs) and adrenal or extra-adrenal pheochromocytomas. Hereditary paragangliomas belong to a group of dominantly inherited disorders characterized by the development of highly vascularized, nonchromaffin tumors arising in parasympathetic ganglia, usually in the head and neck. Up to 50% of paragangliomas are familial, and multiple loci are known to be involved. The genes responsible for familial paraganglioma / pheochromocytoma (PGL/PCC) syndromes encode three of the four subunits of the succinate-dehydrogenase (SDH) mitochondrial enzyme complex: SDHB, SDHC and SDHD.
Molecular Genetics:
Succinate-dehydrogenase is involved in oxidation of succinate to fumarate in the Krebs cycle and in providing electrons to the mitochondrial electron transport chain. SDHC and SDHD proteins anchor complex II in the inner mitochondrial membrane while SDHB encodes one of the two subunits of the catalytic core, the iron-sulphur protein.
SDHB (1p25) is composed of eight exons and is approximately 40 kb in length. Nonsense, missense, and splice-site mutations, intragenic deletions and insertions, and whole-gene SDHB deletions have been reported in individuals affected with hereditary paraganglioma syndromes.
SDHC (1q21) has six exons and is more than 35 kb in length. Nonsense, missense, splice-site, regulatory, and exon deletions have been reported in individuals affected with hereditary PGL syndromes.
SDHD (11q23) consists of four exons that encodes a 1313-bp transcript. Nonsense, missense, splice-site, intragenic insertions and deletions, and a whole-gene deletion have been reported in SDHD in individuals affected with hereditary paraganglioma syndromes.
Test Methods:
Sequence analysis of the mutation previously identified in a family member will be performed.
Detection Rate:
The analytical sensitivity is close to 100% for DNA sequencing.
Related Tests:
Prenatal testing is available for individuals who are confirmed carriers of mutations. Please contact the laboratory director to discuss appropriate testing prior to collecting a prenatal specimen.
We offer the following tests related to Pheochromocytoma:
Multiple Endocrine Neoplasia type 2 - MEN2A and MEN2B analysis (exons 16 -19)
Von-Hippel-Lindau Disease – VHL Gene Sequencing and Deletion Analysis
Results:
Test results with interpretation will be mailed and/or faxed to the referring physician or send out lab following completion of the test. Additional reports will be provided as requested.
Utility:
Molecular diagnosis of affected individuals allows pre-symptomatic screening of at risk family members and leads to early detection and timely intervention in the disease process.
Remarks
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA, cheek epithelial cells, or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.
Contact Us
- (215) 590-8736
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