- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (neuroendocrine tumors of the autonomic nervous system) and pheochromocytomas (paragangliomas of the adrenal medulla). Pathogenic germline mutations in a number of genes, including SDHB, SDHC, and SDHD, predispose to paraganglioma and pheochromocytoma with risk of malignant transformation.
Incidence: About 1 in 300,000 per year.
Inheritance: Autosomal dominant; parent of origin effect for SDHD.
Cause: Pathogenic succinate dehydrogenase, subunits B, C, and D (SDHB, SDHC, and SDHD) gene mutations. Mutations in other genes, including TMEM127, EGLN1, MAX, SDHA, and SDHAF2, may also be causative.
Clinical Sensitivity: Unknown.
Methodology: Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large SDHB, SDHC, and SDHD deletions/duplications.
Analytical Sensitivity and Specificity: 90 and 99 percent, respectively.
Limitations:Diagnostic errors can occur due to rare sequence variations. Single base pair substitutions, small deletions/duplications, regulatory region mutations, and deep intronic mutations will not be detected. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than SDHB, SDHC, and SDHD are not evaluated.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2007114||HPGL-PCC (SDHB,C,D) DelDup Specimen|
|2007115||HPGL-PCC (SDHB,C,D) DelDup Interp|
- Hereditary PGL/PCC Familial Mutation Detection
- Paraganglioma (SDHB, SDHC, and SDHD) Deletion/Duplication
- PCC (SDHB, SDHC, and SDHD) Deletion/Duplication
- PGL (SDHB, SDHC, and SDHD) Deletion/Duplication
- Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication
- SDHB, SDHC, and SDHD Deletion/Duplication
- SDHD Gene
- Stromal Tumor (SDHB, SDHC, and SDHD) Deletion/Duplication
- Succinate Dehydrogenase genetic assay
- Succinate Dehydrogenase, subsets B, C, and D (SDHB, SDHC, and SDHD) Deletion/Duplication