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ErkrankungMultiple endokrine Tumore, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Multiple endokrine Tumore mit 1 Leitlinien-kuratierten und 15 bzw. zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0930
Anzahl Gene
17 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
16,9 kb (Core-/Basis-Gene)
21,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AIP993AD und/oder Sus
CDC731596AD und/oder Sus
CDKN1B597AD und/oder Sus
MAX483AD und/oder Sus
MEN11833AD und/oder Sus
PRKAR1A1146AD und/oder Sus
RET3345AD und/oder Dig und/oder Sus
SDHA1995AD und/oder AR und/oder Sus
SDHAF2501AD und/oder Sus
SDHB843AD und/oder Sus
SDHC510AD und/oder Sus
SDHD480AD und/oder AR und/oder Sus
TMEM127717AD und/oder Sus
TP531182AD und/oder SMu und/oder Sus
VHL642AD und/oder AR und/oder SMu und/oder Sus
CASR3237AD und/oder AR
PTEN1212AD und/oder SMu und/oder Sus

Infos zur Erkrankung

Klinischer Kommentar

siehe ORPHA:573163 (Gruppe von Erkrankungen)

Neuroendokrine Tumore: Paragangliome kommen in allen Paraganglien von der Schädelbasis bis zum Beckenboden vor, Phäochromozytome (Nebennierenmark-Paragangliome)

 

Synonyme
  • Alias: Adenomatosis, familial endocrine
  • Alias: Endocrine neoplasia, multiple
  • Alias: Familial endocrine adenomatosis
  • Alias: MEN
  • Alias: Multiple endocrine adenomatosis
  • Alias: Multiple endocrine neoplasms
  • Allelic: Acrodysostosis 1, with/-out hormone resistance (PRKAR1A)
  • Allelic: Angiofibroma, somatic (MEN1)
  • Allelic: Basal cell carcinoma 7 (TP53)
  • Allelic: Bone marrow failure syndrome 5 (TP53)
  • Allelic: Breast cancer, somatic (TP53)
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Central hypoventilation syndrome, congenital (RET)
  • Allelic: Choroid plexus papilloma (TP53)
  • Allelic: Colorectal cancer (TP53)
  • Allelic: Epilepsy idiopathic generalized, susceptibility to (CASR)
  • Allelic: Erythrocytosis, familial, 2 (VHL)
  • Allelic: Gastrointestinal stromal tumor (SDHB, SDHC)
  • Allelic: Glioma susceptibility 1 (TP53)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Hemangioblastoma, cerebellar, somatic (VHL)
  • Allelic: Hepatocellular carcinoma, somatic (TP53)
  • Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
  • Allelic: Hypocalcemia, AD (CASR)
  • Allelic: Hypocalcemia, AD, with Bartter syndrome (CASR)
  • Allelic: Hypocalciuric hypercalcemia, type I (CASR)
  • Allelic: Leigh syndrome (SDHA)
  • Allelic: Lipoma, somatic (MEN1)
  • Allelic: Macrocephaly
  • Allelic: Meningioma (PTEN)
  • Allelic: Mitochondrial respiratory chain complex II deficiency (SDHA, SDHD)
  • Allelic: Myxoma, intracardiac (PRKAR1A)
  • Allelic: Nasopharyngeal carcinoma, somatic (TP53)
  • Allelic: Osteosarcoma (TP53)
  • Allelic: Pancreatic cancer, somatic (TP53)
  • Allelic: Renal cell carcinoma, somatic (VHL)
  • Adrenal adenoma, somatic (MEN1)
  • Adrenocortical carcinoma, pediatric (TP53)
  • Adrenocortical tumor, somatic (PRKAR1A)
  • Carcinoid tumor of lung (MEN1)
  • Carney complex, type 1 (PRKAR1A)
  • Cowden syndrome 1 (PTEN)
  • Fumarase deficiency (FH)
  • Hyperparathyroidism, familial primary (CDC73)
  • Hyperparathyroidism, neonatal (CASR)
  • Hyperparathyroidism-jaw tumor syndrome (CDC73)
  • Leiomyomatosis + renal cell cancer (FH)
  • Lhermitte-Duclos syndrome (PTEN)
  • Li-Fraumeni syndrome (TP53)
  • Medullary thyroid carcinoma (RET)
  • Multiple endocrine neoplasia I (MEN1)
  • Multiple endocrine neoplasia IIA + IIB (RET)
  • Multiple endocrine neoplasia IV (CDKN1B)
  • Neuroendocrine cancer [panelapp] (FH)
  • Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
  • Paragangliomas 1, with/-out deafness (SDHD)
  • Paragangliomas 2 (SDHAF2)
  • Paragangliomas 3 (SDHC)
  • Paragangliomas 4 (SDHB)
  • Paragangliomas 5 (SDHA)
  • Parathyroid adenoma with cystic changes (CDC73)
  • Parathyroid adenoma, somatic (MEN1)
  • Parathyroid carcinoma (CDC73)
  • Pheochromocytoma (RET, SDHB, SDHD, VHL)
  • Pheochromocytoma, susceptibility to (MAX, TMEM127)
  • Pigmented nodular adrenocortical disease, primary, 1 (PRKAR1A)
  • Pituitary adenoma 1, multiple types (AIP)
  • Pituitary adenoma predisposition (AIP)
  • Von Hippel-Lindau syndrome (VHL)
  • autism syndrome (PTEN)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Dig und/oder Sus
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
C74.-

Bioinformatik und klinische Interpretation

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