ARUP's Laboratory Test Directory

Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication : 2007122
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Patient History for Hereditary Paraganglioma Pheochromocytoma Testing
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Additional Technical Information


Mnemonic: SDHD FGA

Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed: Varies
Reported: 14-21 days
Specimen Required: 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.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: Rare diagnostic errors can occur due to primer or probe site mutations. 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
CPT Code(s): 81404, 81479
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)