Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication
2007117
Ordering Recommendation
 
Mnemonic
SDHC FGA
Methodology
Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
14-21 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 (SDHC) Sequencing and 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 SDHC, predispose to paraganglioma and pheochromocytoma.
Incidence:
About 1 in 300,000 per year.
Inheritance:
Autosomal dominant.
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:
4 percent.
Methodology:
Bidirectional sequencing of all coding regions and intron-exon boundaries of the SDHC gene; multiplex ligation-dependent probe amplification (MLPA) to detect large SDHC 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 SDHC 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; 81405
Components
Component Test Code*Component Chart Name
2007118HPGL-PCC (SDHC) Seq, DelDup Specimen
2007119HPGL-PCC (SDHC) 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 PGL/PCC Type 3 molecular assay
  • Paraganglioma (SDHC) Sequencing and Deletion/Duplication
  • PCC (SDHC) Sequencing and Deletion/Duplication
  • PGL (SDHC) Sequencing and Deletion/Duplication
  • Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication
  • SDHC Sequencing and Deletion/Duplication
  • SDHD Gene
  • Stromal Tumor (SDHC) Sequencing and Deletion/Duplication
  • Succinate Dehydrogenase genetic assay
  • Succinate Dehydrogenase, subset C (SDHC) Sequencing and Deletion/Duplication