Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication
2007122
Ordering Recommendation
 
Mnemonic
SDHD 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 (SDHD) 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 SDHD, predispose to paraganglioma and pheochromocytoma.
Incidence:
About 1 in 300,000 per year.
Inheritance:
Autosomal dominant; disease manifestations generally occur when mutations in SDHD are inherited from the father (but not from the mother) due to a parent of origin effect.
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:
15 percent.
Methodology:
Bidirectional sequencing of all coding regions and intron-exon boundaries of the SDHD gene; multiplex ligation-dependent probe amplification (MLPA) to detect large 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 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 Name
2007123HPGL-PCC (SDHD) Seq, DelDup Specimen
2007124HPGL-PCC (SDHD) 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
  • Succinate Dehydrogenase genetic assay
  • Hereditary PGL/PCC Type 1 molecular assay
  • Paraganglioma (SDHD) Sequencing and Deletion/Duplication
  • PCC (SDHD) Sequencing and Deletion/Duplication
  • PGL (SDHD) Sequencing and Deletion/Duplication
  • Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication
  • SDHD Gene
  • SDHD Sequencing and Deletion/Duplication
  • Stromal Tumor (SDHD) Sequencing and Deletion/Duplication
  • Succinate Dehydrogenase, subset C (SDHD) Sequencing and Deletion/Duplication