Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication
2007113
 
Ordering Recommendation
This is a second tier test and REQUIRES PERMISSION fromARUPs 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.
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.



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; 81479
Components
Component Test Code*Component Chart Name
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, contact interface support at interface.support@aruplab.com.
Cross References
  • Paraganglioma (SDHB, SDHC, and SDHD) Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication)
  • PCC (SDHB, SDHC, and SDHD) Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication)
  • PGL (SDHB, SDHC, and SDHD) Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication)
  • Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication)
  • SDHB, SDHC, and SDHD Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication)
  • Stromal Tumor (SDHB, SDHC, and SDHD) Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication)
  • Succinate Dehydrogenase, subsets B, C, and D (SDHB, SDHC, and SDHD) Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Deletion/Duplication)