Hereditary Paraganglioma-Pheochromocytoma (SDHA, SDHB, SDHC, and SDHD) Sequencing and Deletion/Duplication
Also known as: SDH NGS
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
Not provided.
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.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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