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.
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.



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
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, contact interface support at interface.support@aruplab.com.
Cross References
  • Paraganglioma (SDHD) Sequencing and Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication)
  • PCC (SDHD) Sequencing and Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication)
  • PGL (SDHD) Sequencing and Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication)
  • Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication)
  • SDHD Sequencing and Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication)
  • Stromal Tumor (SDHD) Sequencing and Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication)
  • Succinate Dehydrogenase, subset C (SDHD) Sequencing and Deletion/Duplication (Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication)