Ordering Recommendation

Preferred initial test when hereditary paraganglioma-pheochromocytoma is suspected.


Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification




21-28 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

Lavender (K2EDTA), 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: 1 week; Refrigerated: 1 month; Frozen: 6 months

Reference Interval
Interpretive Data

Background Information for Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel:
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.
About 1 in 300,000 per year.
Autosomal dominant; parent of origin effect for SDHD.
: 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:
26-30 percent.
Bidirectional sequencing of all coding regions and intron-exon boundaries of the SDHB, SDHC, and SDHD genes; Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large SDHB, SDHC, and 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 SDHB, SDHC, and SDHD are not evaluated. This assay is not designed to detect somatic variants associated with malignancy. Interpretation of this test result may be impacted if the patient has had an allogeneic stem cell transplantation.

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.

Hotline History
CPT Codes

81404; 81405; 81479

Component Test Code* Component Chart Name LOINC
2007168 HPGL-PCC (SDHB,C,D) Seq, DelDup Specimen 31208-2
2007169 HPGL-PCC (SDHB,C,D) Seq, DelDup Interp 41103-3
* 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.
  • Hereditary Paraganglioma-Pheochromocytoma molecular assay
  • Paraganglioma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • PCC (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • PGL (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • SDHB, SDHC, and SDHD Sequencing and Deletion/Duplication
  • SDHB, SDHC, SDHD Genes
  • Stromal Tumor (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
  • Succinate Dehydrogenase genetic assay
  • Succinate Dehydrogenase, subsets B, C, and D (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplicat
Hereditary Paraganglioma-Pheochromocytoma (SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication Panel