Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing
Ordering Recommendation

Confirm a suspected diagnosis of hereditary paraganglioma-pheochromocytoma when SDHB, SDHC, and SDHD gene testing is negative.

Polymerase Chain Reaction/Sequencing
Sun- Sat
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
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 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 (SDHA)Sequencing:
: Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome is 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 SDHA, predispose to paraganglioma and pheochromocytoma with risk of malignant transformation.
: About 1 in 300,000 per year.
: Autosomal dominant.
: Pathogenic succinate dehydrogenase, subunits A, B, C, and D (SDHA, SDHB, SDHC, and SDHD) gene mutations. Mutations in other genes, including TMEM127, EGLN1, MAX, and SDHAF2, may also be causative.
Clinical Sensitivity
: Less than 3 percent.
: Bidirectional sequencing of all coding regions and intron-exon boundaries of the SDHA gene. Sequencing primers are specifically selected to target the functional SDHA gene.
Analytical Sensitivity and Specificity
: 96 percent.
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications in SDHA are not detected. In some cases, results may be uninterpretable due to technical limitations in the presence of pseudogenes. 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.

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

Statement C: 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
Component Test Code*Component Chart NameLOINC
2011462Hereditary PGL/PCC (SDHA) Seq - Spcmn31208-2
2011464Hereditary PGL/PCC (SDHA) Seq - Interp35474-6
* 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 view this test within the Laboratory Test Directory found at
  • subunit A flavoprotein
  • succinate dehydrogenase complex