IllnessNeuroendocrine tumors/polyposis, pediatric; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Neuroendocrine tumors/polyposis, pediatric containing 17 core candidate genes and altogether 28 curated genes according to the clinical signs

TP5859

Number of genes

25 Accredited laboratory test

Examined sequence length

32,3 kb (Core-/Core-canditate-Genes)
53,6 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
APC	8532	611731	NM_000038.6	AD
CDKN1B	597	600778	NM_004064.5	AD, Sus
MAX	483	154950	NM_002382.5	AD
MEN1	1833	613733	NM_130799.2	AD
MLH1	2271	120436	NM_000249.4	AD
MSH2	2805	609309	NM_000251.3	AD
MSH6	4083	600678	NM_000179.3	AD
PMS2	2589	600259	NM_000535.7	AD
RET	3345	164761	NM_020975.6	AD
SDHA	1995	600857	NM_004168.4	AR, AD
SDHAF2	501	613019	NM_017841.4	AD
SDHB	843	185470	NM_003000.3	AD
SDHC	510	602413	NM_003001.5	AD
SDHD	480	602690	NM_003002.4	AD, AR, Sus
TMEM127	717	613403	NM_017849.4	AD
VHL	642	608537	NM_000551.4	AD
BMPR1A	1599	601299	NM_004329.3	AD
CDC73	1596	607393	NM_024529.5	AD
EPCAM	945	185535	NM_002354.3	AD
MUTYH	1650	604933	NM_001128425.2	AR, Sus
NF1	8457	613113	NM_001042492.3	AD
NF2	1788	607379	NM_000268.4	AD
NTRK1	2373	191315	NM_001012331.2	AD
SMAD4	1659	600993	NM_005359.6	AD
STK11	1302	602216	NM_000455.5	AD

Informations about the disease

Clinical Comment

group of heterogenous disorders

Synonyms

Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
Allelic: Central hypoventilation syndrome, congenital (RET)
Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
Allelic: Erythrocytosis, familial, 2 (VHL)
Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
Allelic: Mitochondrial complex II deficiency, nuclear type 1 (SDHA)
Allelic: Mitochondrial complex II deficiency, nuclear type 3 (SDHD)
Allelic: Mitochondrial complex II deficiency, nuclear type 4 (SDHB)
Allelic: Myhre syndrome (SMAD4)
Allelic: Neurodegeneration with ataxia + late-onset optic atrophy (SDHA)
Adenoma, periampullary, somatic (APC)
Adenomas, multiple colorectal (MUTYH)
Adenomatous polyposis coli (APC)
Adrenal adenoma, somatic (MEN1)
Angiofibroma, somatic (MEN1)
Brain tumor-polyposis syndrome 2 (APC)
Carcinoid tumor of lung (MEN1)
Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
Colorectal cancer, somatic (APC)
Desmoid disease, hereditary (APC)
Endometrial cancer, familial (MSH6)
Gardner syndrome (APC)
Gastric adenocarcinoma + proximal polyposis of the stomach (APC)
Gastric cancer, somatic (APC)
Gastric cancer, somatic (MUTYH)
Gastrointestinal stromal tumor (SDHB, SDHC)
Hemangioblastoma, cerebellar, somatic (VHL)
Hepatoblastoma, somatic (APC)
Hyperparathyroidism, familial primary (CDC73)
Hyperparathyroidism-jaw tumor syndrome (CDC73)
Insensitivity to pain, congenital, with anhidrosis (NTRK1)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
Lipoma, somatic (MEN1)
Medullary thyroid carcinoma (RET)
Melanoma, malignant, somatic (STK11)
Mismatch repair cancer syndrome 1 (MLH1)
Mismatch repair cancer syndrome 2 (MSH2)
Mismatch repair cancer syndrome 3 (MSH6)
Mismatch repair cancer syndrome 4 (PMS2)
Muir-Torre syndrome (MLH1, MSH2)
Multiple endocrine neoplasia 1 (MEN1)
Multiple endocrine neoplasia IIA (RET)
Multiple endocrine neoplasia IIB (RET)
Multiple endocrine neoplasia, type IV (CDKN1B)
Pancreatic cancer, somatic (SMAD4)
Pancreatic cancer, somatic (STK11)
Paraganglioma + gastric stromal sarcoma (SDHB, SDHC, SDHD)
Paragangliomas 1, with or without 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)
Peutz-Jeghers syndrome (STK11)
Pheochromocytoma (RET, SDHB, SDHD, VHL)
Pheochromocytoma, susceptibility to (MAX, TMEM127)
Polyposis syndrome, hereditary mixed, 2 (BMPR1A)
Polyposis, juvenile intestinal (BMPR1A)
Polyposis, juvenile intestinal (SMAD4)
Renal cell carcinoma, somatic (VHL)
Testicular tumor, somatic (STK11)
von Hippel-Lindau syndrome (VHL)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined