Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication
2007113
Ordering Recommendation
This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.
Mnemonic
SDHBCD DD
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 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: 1 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) Deletion/Duplication:
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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81404; 81479
Components
Component Test Code*Component Chart NameLOINC
2007114HPGL-PCC (SDHB,C,D) DelDup Specimen 
2007115HPGL-PCC (SDHB,C,D) 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 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