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Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing
2011461
Ordering Recommendation

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

Mnemonic
SDHA FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Sun- Sat
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.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2 EDTA), or Yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Interpretive Data
Background Informationfor Hereditary Paraganglioma-Pheochromocytoma (SDHA)Sequencing:
Characteristics: 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.
Incidence: About 1 in 300,000 per year.
Inheritance: Autosomal dominant.
Cause: 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.
Methodology: 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.
Limitations: 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.

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

Compliance 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)
81406
Components
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 click the sidebar link to access the Interface Map.
Aliases
  • PGL/PCC
  • subunit A flavoprotein
  • succinate dehydrogenase complex