Genetic mutation analysis for succinate dehydrogenase (SDH) subunit B (SDHB) in whole blood

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of certain cancers, such as paragangliomas, pheochromocytomas, or gastrointestinal stromal tumors (GIST). It could also be suggested if you’ve been diagnosed with one of these cancers or if symptoms suggest a genetic predisposition.

What to Expect Before the Test

No special preparation is needed. You’ll provide a small blood sample, typically drawn from your arm. If you’re pregnant or have a bleeding disorder, let your provider know before the test.

What the Results Mean

If a mutation is found, it means you have a genetic change in the SDHB gene. This doesn’t always mean you’ll develop cancer, but it increases your risk. Your provider will discuss next steps, such as monitoring, lifestyle changes, or genetic counseling.

Common Conditions Linked to SDHB Mutations

Mutations in the SDHB gene are associated with hereditary paraganglioma-pheochromocytoma syndrome, which can lead to tumors in the adrenal glands, head/neck, or other areas. They may also raise risk for GIST or other cancers.