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Hereditary paraganglioma-pheochromocytoma [12 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.
Steps to follow
How to order
1. Download & fill out
Please cover as many fields as possible in both documents
2. Sample collection
Three sample types: saliva, peripheral blood or genomic DNA
3. Pack the sample
Please pack the sample in a way to prevent leakage
4. Send the sample & the request
Please schedule the delivery for Mon–Thur: 8am – 5pm
5. Result: the report
Via: Client Site HIC / Client Site Imegen / Certified email
Solicita información de
Hereditary paraganglioma-pheochromocytoma
Turnaround time (TAT): 4 weeks
Ref. S-202009127
- RET
- NF1
- SDHB
- SDHD
- VHL
- SDHC
- FH
- KIF1B
- SDHA
- SDHAF2
- MAX
- TMEM127
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.