English
Klinische FragestellungVaskulopathie, retinal, mit zerebraler Leukoenzephalopathie + systemischen Manifestationen
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Vaskulopathie, retinal, mit zerebraler Leukoenzephalopathie + systemischen Manifestationen mit 1 "core"-Gen bzw. zusammen genommen 13 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
RP5550
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,0 kb (Core-/Core-canditate-Gene)
35,1 kb (Erweitertes Panel: inkl. additional genes)
35,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| TREX1 | 945 | NM_033629.6 | AD, AR | |
| CTLA4 | 525 | NM_001037631.3 | AD, Sus | |
| CTSA | 1497 | NM_000308.4 | AR | |
| DNASE1 | 849 | NM_005223.4 | AD, Sus | |
| FCGR2A | 954 | NM_001136219.3 | AD, Sus | |
| FCGR2B | 873 | NM_001002273.3 | AD, Sus | |
| GLA | 1290 | NM_000169.3 | XL | |
| HTRA1 | 1443 | NM_002775.5 | AD, AR | |
| NF1 | 8457 | NM_001042492.3 | AD | |
| NOTCH3 | 6966 | NM_000435.3 | AD | |
| PTPN22 | 2340 | NM_015967.7 | AD, Sus | |
| TSC1 | 3495 | NM_000368.5 | AD | |
| TSC2 | 5424 | NM_000548.5 | AD |
Infos zur Erkrankung
Synonyme
- Allelic: Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
- Allelic: Autoimmune lymphoproliferative syndrome, type V (CTLA4)
- Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
- Allelic: Chilblain lupus (TREX1)
- Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
- Allelic: Diabetes, type 1, susceptibility to (PTPN22)
- Allelic: Focal cortical dysplasia, type II, somatic (TSC1)
- Allelic: Focal cortical dysplasia, type II, somatic (TSC2)
- Allelic: Hashimoto thyroiditis (CTLA4)
- Allelic: Lateral meningocele syndrome (NOTCH3)
- Allelic: Leukemia, juvenile myelomonocytic (NF1)
- Allelic: Lymphangioleiomyomatosis (TSC1)
- Allelic: Lymphangioleiomyomatosis, somatic (TSC2)
- Allelic: Macular degeneration, age-related, 7 (HTRA1)
- Allelic: Macular degeneration, age-related, neovascular type (HTRA1)
- Allelic: Malaria, resistance to (FCGR2B)
- Allelic: Malaria, severe, susceptibility to (FCGR2A)
- Allelic: Myofibromatosis, infantile 2 (NOTCH3)
- Allelic: Neurofibromatosis, familial spinal (NF1)
- Allelic: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis (FCGR2A)
- Allelic: Rheumatoid arthritis, susceptibility to (PTPN22)
- Allelic: Watson syndrome (NF1)
- CARASIL syndrome (HTRA1)
- Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
- Cerebral arteriopathy, AD, with subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
- Fabry disease (GLA)
- Fabry disease, cardiac variant (GLA)
- Galactosialidosis (CTSA)
- Lupus nephritis, susceptibility to (FCGR2A)
- Neurofibromatosis, type 1 (NF1)
- Neurofibromatosis-Noonan syndrome (NF1)
- Systemic lupus erythematosus susceptibility to (PTPN22)
- Systemic lupus erythematosus, susceptibility to (CTLA4)
- Systemic lupus erythematosus, susceptibility to (DNASE1)
- Systemic lupus erythematosus, susceptibility to (FCGR2B)
- Systemic lupus erythematosus, susceptibility to (TREX1)
- Tuberous sclerosis-1 (TSC1)
- Tuberous sclerosis-2 (TSC2)
- Vasculopathy, retinal, with cerebral leukoencephalopathy + systemic manifestations (TREX1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Sus
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
Kein Text hinterlegt