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IllnessGlioma, associated with hereditary tumor syndromes
Summary
Short information
Comprehensive differential diagnostic panel for Gliomas [associated with hereditary tumor syndromes] comprising 11 guideline-curated genes according to the clinical signs
ID
GP6420
Number of genes
9
Accredited laboratory test
Examined sequence length
27,2 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CDKN2A | 471 | NM_000077.5 | AD, Sus | |
| MLH1 | 2271 | NM_000249.4 | AD, AR | |
| MSH2 | 2805 | NM_000251.3 | AD, Sus | |
| MSH6 | 4083 | NM_000179.3 | AD, Sus | |
| NF1 | 8457 | NM_001042492.3 | AD | |
| NF2 | 1788 | NM_000268.4 | AD | |
| PMS2 | 2589 | NM_000535.7 | Sus, AD | |
| TP53 | 1182 | NM_000546.6 | AD | |
| TSC1 | 3495 | NM_000368.5 | AD |
Informations about the disease
Clinical Comment
Heterogenous group of disorders
Synonyms
- Alias: Glioma: astrocytoma, glioblastoma multiforme, oligodendroglioma, ependymoma, subependymoma
- Allelic: Adrenocortical carcinoma, pediatric (TP53)
- Allelic: Basal cell carcinoma 7 (TP53)
- Allelic: Bone marrow failure syndrome 5 (TP53)
- Allelic: Choroid plexus papilloma (TP53)
- Allelic: Colorectal cancer (TP53)
- Allelic: Li-Fraumeni syndrome (TP53)
- Allelic: Osteosarcoma (TP53)
- 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)
- D-2-hydroxyglutaric aciduria 2 (IDH2)
- Endometrial cancer, familial (MSH6)
- Focal cortical dysplasia, type II, somatic (TSC1)
- Glioma susceptibility 1 (TP53)
- Glioma, susceptibility to, somatic (IDH1)
- Leukemia, juvenile myelomonocytic (NF1)
- Lymphangioleiomyomatosis (TSC1)
- Melanoma + neural system tumor syndrome (CDKN2A)
- Melanoma, cutaneous malignant, 2 (CDKN2A)
- Melanoma-pancreatic cancer syndrome (CDKN2A)
- Meningioma, NF2-related, somatic (NF2)
- Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
- Muir-Torre syndrome (MLH1, MSH2)
- Neurofibromatosis, familial spinal (NF1)
- Neurofibromatosis, type 1 (NF1)
- Neurofibromatosis, type 2 (NF2)
- Neurofibromatosis-Noonan syndrome (NF1)
- Schwannomatosis, somatic (NF2)
- Tuberous sclerosis-1 (TSC1)
- Watson syndrome (NF1)
Heredity, heredity patterns etc.
- AD
- AR
- Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined