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

RP5550

Anzahl Loci

Locus-Typ	Anzahl
Gen	13

Akkreditierte Untersuchung

Untersuchte Sequenzlänge

1,0 kb (Core-/Core-canditate-Gene)
35,1 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Untersuchungsmaterial

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Loci

Gen

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
TREX1	945	606609	NM_033629.6	AD, AR
CTLA4	525	123890	NM_001037631.3	AD, Sus
CTSA	1497	613111	NM_000308.4	AR
DNASE1	849	125505	NM_005223.4	AD, Sus
FCGR2A	954	146790	NM_001136219.3	AD, Sus
FCGR2B	873	604590	NM_001002273.3	AD, Sus
GLA	1290	300644	NM_000169.3	XL
HTRA1	1443	602194	NM_002775.5	AD, AR
NF1	8457	613113	NM_001042492.3	AD
NOTCH3	6966	600276	NM_000435.3	AD
PTPN22	2340	600716	NM_015967.7	AD, Sus
TSC1	3495	605284	NM_000368.5	AD
TSC2	5424	191092	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

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