Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel
2007167
Ordering Recommendation
 
Mnemonic
SDHBCD PAN
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
21-28 days  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel:
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:
26-30 percent.
Methodology:
Bidirectional sequencing of all coding regions and intron-exon boundaries of the SDHB, SDHC, and SDHD genes; Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large SDHB, SDHC, and SDHD deletions/duplications.
Analytical Sensitivity and Specificity:
Sequencing: 99 percent; MLPA: 90 and 99 percent, respectively.
Limitations:
Diagnostic errors can occur due to rare sequence variations. 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 at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81404 x2; 81405 x2;  81479
Components
Component Test Code*Component Chart Name
2007168HPGL-PCC (SDHB,C,D) Seq, DelDup Specimen
2007169HPGL-PCC (SDHB,C,D) Seq, DelDup Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Hereditary Paraganglioma-Pheochromocytoma molecular assay
  • Paraganglioma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • PCC (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • PGL (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • SDHB, SDHC, and SDHD Sequencing and Deletion/Duplication
  • SDHB, SDHC, SDHD Genes
  • Stromal Tumor (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • Succinate Dehydrogenase genetic assay
  • Succinate Dehydrogenase, subsets B, C, and D (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication