Hereditary paraganglioma-pheochromocytoma [14 genes]

Hereditary cases reach up to 35-45% of all pheochromocytomas and paragangliomas. The genetic causes are heterogeneous and are mainly associated with the SDH, SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes. However, other syndrome exist that can relate to this type of cancer, such as Neurofibromatosis type 1 (NF1 gene), Von HippelLindau syndrome (VHL gene) and MEN2 (RET gene), all of them with a dominant autosomal inheritance pattern.

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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5. Result: the report

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Hereditary paraganglioma-pheochromocytoma

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Technique: NGS capture panel

Turnaround time (TAT): 15 days

Ref. S-202211934

Hereditary paraganglioma-pheochromocytoma: View panel
  • FH
  • GDNF
  • KIF1B
  • MAX
  • MEN1
  • NF1
  • RET
  • SDHA
  • SDHAF2
  • SDHB
  • SDHC
  • SDHD
  • TMEM127
  • VHL

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

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Hereditary paraganglioma-pheochromocytoma [14 genes]