Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication
Ordering Recommendation

Use when SDHD-related hereditary paraganglioma-pheochromocytoma is suspected.

Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
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.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Information for Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication:
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.
About 1 in 300,000 per year.
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.
: 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.
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.
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.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
2007123HPGL-PCC (SDHD) Seq, DelDup Specimen31208-2
2007124HPGL-PCC (SDHD) Seq, DelDup Interp41061-3
* 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.
  • 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