Neuroendocrine tumours
*= For these genes, an MLPA analysis may be performed as an additional diagnostic step.
Small panel (#703): Multiple endocrine neoplasias types I, II and IV
CDKN1B, MEN1*, RET
(3 genes, 5,78 kb)
Small panel (#704): Hereditary paraganglioma/pheochromocytoma
MAX, RET, SDHA, SDHAF2*, SDHB*, SDHC*, SDHD*, TMEM127, VHL*
(9 genes, 9,52 kb)
Small panel (#705): Hyperparathyroidism
AP2S1, CASR, CDC73, GCM2, GNA11, TRPV6
(6 genes, 10 kb)
Large panel (#706): Multiple endocrine neoplasias types I, II and IV, hereditary paraganglioma/pheochromocytoma
AP2S1, CASR, CDC73, CDKN1B, GCM2, GNA11, KIF1B, MAX, MEN1*, NF1, RET, SDHA, SDHAF2*, SDHB*, SDHC*, SDHD*, TMEM127, TRPV6, VHL*
(19 genes, 35 kb)
Single gene diagnostics:
AP2S1, CASR, CDKN1B, GNA11, MAX, MEN1*, RET, SDHA, SDHAF2*, SDHB*, SDHC*, SDHD*, TMEM127, VHL*
Contact
Assistant Prof. Dr. Bodo Beck
Telephone +49 221 478-86824
Email bodo.beck@uk-koeln.de
Dr. Florian Erger
Telephone +49 221 478-86828
Email florian.erger@uk-koeln.de