Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR41642Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004480CPT Codes 81404, 81405, 81406, 81479

Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication

Also known as: SDH NGS

Clinical Use

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Use

This test is used for germline analysis of genes associated with hereditary paraganglioma-pheochromocytoma syndromes. It helps in identifying pathogenic germline variants in SDHA, SDHB, SDHC, and SDHD genes, which predispose individuals to paragangliomas and pheochromocytomas with increased risk of malignancy. The test aids in confirming a diagnosis of hereditary paraganglioma-pheochromocytoma syndrome, facilitating appropriate clinical management and risk assessment for affected individuals and their families.

Special Instructions

A Hereditary Cancer Testing Patient History Form and Informed Consent for Genetic Testing are required for New York patients. Specimens from New York clients will be sent to a New York-approved laboratory.

Limitations

This test detects variants within the coding regions and intron-exon boundaries of the SDHA, SDHB, SDHC, and SDHD genes. It may not detect deletions, duplications, or insertions of any size by massively parallel sequencing and has limited capability to identify regulatory region variants and large deletions or duplications precisely. Certain regions such as SDHA exon 14 may not be sequenced due to technical limitations. The assay does not detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions. In some cases, variants may not be identified due to pseudogenes, repetitive regions, or homologous regions.

Test Details