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Klinische FragestellungWeiße Hirnsubstanz-Erkrankungen, im Erwachsenenalter; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Weiße-Hirnsubstanz-Erkrankungen, Beginn im Erwachsenenalter, mit 80 Leitlinien-kuratierten und insgesamt 115 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
WP5858
Anzahl Gene
110 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
137,3 kb (Core-/Core-canditate-Gene)
199,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AARS22958AR
ABCD12238XLR
ACP5978AR
ADAR2796AD, AR
ALDH3A21458AR
ARSA1530AR
AUH1020AR
CBS1656AR
CLCN22697AR
CLN31317AR
CLN51077AR
CLN6936AR
CLN8861AR
COA8797AD
COL4A15010AD, Mult
COL4A25139AD
CSF1R2919AD
CTSD1239AR
CTSF1455AR
CYP27A11596AR
DARS21938AR
DDX582778AD
DNAJC5597AD
EIF2B1918AR
EIF2B21056AR
EIF2B31359AR
EIF2B41569AR
EIF2B52166AR
FA2H1119AR
FUCA11401AR
GALC2058AR
GAN1794AR
GBA11611AD, AR
GBE12109AR
GCDH1317AR
GFAP1299AD
GJA11149AD, AR
GJC21320AR
GLA1290XL, Mult
GLB12034AR
GRN1782AD
HEPACAM1251AD, AR
HEXA1590AR
HEXB1671AR
HMGCL978AR
HTRA11443AD, AR
IFIH13078AD
ISG15498AR
KARS11940AR
KCTD7870AR
L2HGDH1392AR
LMNB11761AD
MAN2B13036AR
MANBA2640AR
MARS21782AR
MCOLN11743AR
MFSD81557AR
MLC11134AR
MTHFR1971AR
NOTCH36966AD
NPC13837AR
NPC2456AR
PEX7972AR
PHYH1017AR
PLP1834XLR
POLR1C1041AR
POLR3A4173AR
POLR3B3402AR
PPT1921AD
PSMB8831AR, digenisch
RNASEH2A900AR
RNASEH2B939AR
RNASEH2C495AR
SAMHD11881AR
SLC17A51488AR
STING11219AD
TREM2660AR
TREX1945AD, AR
TUBB4A1335AD
TYROBP309AR, digenisch
AARS12927AD
CTC13654AR
CTSA1497AR
DARS11506AR
EARS21572AR
GJB1852XLD
MARS12703AD
OCRL2706XLR
PAH1359AR
PEX13852AR
PEX101041AR
PEX11B780AR
PEX121080AR
PEX131212AR
PEX141134AR
PEX161011AR
PEX19900AR
PEX2918AR
PEX26918AR
PEX31122AR
PEX51920AR
PEX62943AD, AR
PSAP1575AR
PTEN1212AD
RNASET2771AR
RNF2162772AR
RPS6KA32223XLD
SPG117332AR
TYMP1449AR
ZFYVE267620AR

Infos zur Erkrankung

Synonyme
  • DD: Ausschlußkriterien: genetische/Umwelt-Ursache (Infektion, Hypoxie...) bekannt
  • DD: Einschlußkriterien: MRI; Stoffwechseluntersuchungen abgeschlossen
  • DD: andere Ursache phänotypisch ausgeschlossen (Cockayne Syndrom...)
  • Alias: Inherited white matter disorders
  • Alias: Leukodystrophie, erblich
  • Alias: Leukodystrophy, adult onset
  • Alias: Leukodystrophy, inherited
  • Allelic. Sialic acid storage disorder, infantile (SLC17A5)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
  • Allelic: Atrioventricular septal defect 3 (GJA1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2U (MARS)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
  • Allelic: Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
  • Allelic: Chilblain lupus (TREX1)
  • Allelic: Chilblain lupus 2 (SAMHD1)
  • Allelic: Craniometaphyseal dysplasia, AR (GJA1)
  • Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Heimler syndrome 1 (PEX1)
  • Allelic: Heimler syndrome 2 (PEX6)
  • Allelic: Hyperaldosteronism, familial, type II (CLCN2)
  • Allelic: Hyperphenylalaninemia, non-PKU mild (PAH)
  • Allelic: Hypoplastic left heart syndrome 1 (GJA1)
  • Allelic: Interstitial lung + liver disease (MARS)
  • Allelic: Lateral meningocele syndrome (NOTCH3)
  • Allelic: Lymphatic malformation 3 (GJC2)
  • Allelic: Macrocephaly/autism syndrome (PTEN)
  • Allelic: Macular degeneration, age-related, 7 (HTRA1)
  • Allelic: Macular dystrophy with central cone involvement (MFSD8)
  • Allelic: Meningioma (PTEN)
  • Allelic: Myoclonus, intractable, neonatal (KIF5A)
  • Allelic: Myofibromatosis, infantile 2 (NOTCH3)
  • Allelic: Neural tube defects, susceptibility to (MTHFR)
  • Allelic: Oculodentodigital dysplasia (GJA1)
  • Allelic: Oculodentodigital dysplasia, AR (GJA1)
  • Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
  • Allelic: Retinal arteries, tortuosity of (COL4A1)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Allelic: Schizophrenia, susceptibility to (MTHFR)
  • Allelic: Syndactyly, type III (GJA1)
  • Allelic: Systemic lupus erythematosus, susceptibility to (TREX1)
  • Allelic: Thrombosis, hyperhomocysteinemic (CBS)
  • 3-methylglutaconic aciduria, type I (AUH)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Aicardi-Goutieres syndrome 1, AD + AR (TREX1)
  • Aicardi-Goutieres syndrome 2 (RNASEH2B)
  • Aicardi-Goutieres syndrome 3 (RNASEH2C)
  • Aicardi-Goutieres syndrome 4 (RNASEH2A)
  • Aicardi-Goutieres syndrome 5 (SAMHD1)
  • Aicardi-Goutieres syndrome 6 (ADAR)
  • Aicardi-Goutieres syndrome 7 (IFIH1)
  • Alexander disease (GFAP)
  • Amyotrophic lateral sclerosis 5, juvenile (SPG11)
  • Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • Brain small vessel disease +/- ocular anomalies (COL4A1)
  • Brain small vessel disease 2 (COL4A2)
  • CARASIL syndrome (HTRA1)
  • Cerebellar ataxia + hypogonadotropic hypogonadism (RNF216)
  • Cerebral arteriopathy with subcortical infarcts + leukoencephalopathy 1 (NOTCH3)
  • Cerebral arteriopathy, AD, subcortical infarcts + leukoencephalopathy, type 2 (HTRA1)
  • Cerebroretinal microangiopathy with calcifications + cysts (CTC1)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Ceroid lipofuscinosis, neuronal, 1 (PPT1)
  • Ceroid lipofuscinosis, neuronal, 10 (CTSD)
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, AD (CTSF)
  • Ceroid lipofuscinosis, neuronal, 3 (CLN3)
  • Ceroid lipofuscinosis, neuronal, 4A, Kufs type, AR (CLN6)
  • Ceroid lipofuscinosis, neuronal, 4B, Kufs type, AD (DNAJC5)
  • Ceroid lipofuscinosis, neuronal, 5 (CLN5)
  • Ceroid lipofuscinosis, neuronal, 6 (CLN6)
  • Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
  • Ceroid lipofuscinosis, neuronal, 8 (CLN8)
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
  • Coffin-Lowry syndrome (RPS6KA3)
  • Combined SAP deficiency (PSAP)
  • Combined oxidative phosphorylation deficiency 12 (EARS2)
  • Combined oxidative phosphorylation deficiency 8 (AARS2)
  • Cowden syndrome 1 (PTEN)
  • Dent disease 2 (OCRL)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Dyschromatosis symmetrica hereditaria (ADAR)
  • Dystonia 4, torsion, AD (TUBB4A)
  • Fabry disease (GLA)
  • Fabry disease, cardiac variant (GLA)
  • Fucosidosis (FUCA1)
  • GM1-gangliosidosis, type III (GLB1)
  • GM2-gangliosidosis, several forms (HEXA)
  • Galactosialidosis (CTSA)
  • Gaucher disease, atypical (PSAP)
  • Gaucher disease, perinatal lethal (GBA)
  • Gaucher disease, types I, II, III, IIIC (GBA)
  • Giant axonal neuropathy-1 (GAN)
  • Glutaricaciduria, type I (GCDH)
  • Glycogen storage disease IV (GBE1)
  • HMG-CoA lyase deficiency (HMGCL)
  • Hemorrhage, intracerebral, susceptibility to (COL4A1, COL4A2)
  • Hex A pseudodeficiency (HEXA)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Homocystinuria, B6-responsive + nonresponsive types (CBS)
  • Hydrops, lactic acidosis + sideroblastic anemia (LARS2)
  • Hypomyelination with brainstem + spinal cord involvement + leg spasticity (DARS1)
  • IRD (PEX1)
  • Immunodeficiency 38 (ISG15)
  • Intellectual developmental disorder, XL 19 (RPS6KA3)
  • Krabbe disease (GALC)
  • Krabbe disease, atypical (PSAP)
  • L-2-hydroxyglutaric aciduria (L2HGDH)
  • Leukodystrophy, adult-onset, AD (LMNB1)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C)
  • Leukodystrophy, hypomyelinating, 15 (EPRS1)
  • Leukodystrophy, hypomyelinating, 2 (GJC2)
  • Leukodystrophy, hypomyelinating, 6 (TUBB4A)
  • Leukodystrophy, hypomyelinating, 7 +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3A)
  • Leukodystrophy, hypomyelinating, 8, +/- oligodontia +/- hypogonadotropic hypogonadism (POLR3B)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brain stem + spinal cord involvement + lactate elevation (DARS2)
  • Leukoencephalopathy with vanishing white matter (EIF2B1)
  • Leukoencephalopathy with vanishing white matter (EIF2B2)
  • Leukoencephalopathy with vanishing white matter (EIF2B3)
  • Leukoencephalopathy with vanishing white matter (EIF2B4)
  • Leukoencephalopathy with vanishing white matter (EIF2B5)
  • Leukoencephalopathy, cystic, without megalencephaly (RNASET2)
  • Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Lewy body dementia, susceptibility to (GBA)
  • Lhermitte-Duclos syndrome (PTEN)
  • Lowe syndrome (OCRL)
  • Mannosidosis, alpha-, types I + II (MAN2B1)
  • Mannosidosis, beta (MANBA)
  • Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A (HEPACAM)
  • Megalencephalic leukoencephalopathy, subcortical cysts 2B, remitting +/- ment. retard. (HEPACAM)
  • Metachromatic leukodystrophy (ARSA)
  • Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Microangiopathy and leukoencephalopathy, pontine, AD (COL4A1)
  • Microcephaly 26, primary, AD (LMNB1)
  • Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
  • Mitochondrial DNA depletion syndrome 20, MNGIE type (LIG3)
  • Mucolipidosis IV (MCOLN1)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Niemann-Pick disease, type C1 + D (NPC1)
  • Niemann-Pick disease, type C2 (NPC2)
  • Ovarioleukodystrophy (EIF2B2)
  • Ovarioleukodystrophy (EIF2B4)
  • Ovarioleukodystrophy (EIF2B5)
  • Parkinson disease 24, AD, susceptibility to (PSAP)
  • Parkinson disease, late-onset, susceptibility to (GBA)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Peroxisome biogenesis disorder 10A, Zellweger (PEX3)
  • Peroxisome biogenesis disorder 10B (PEX3)
  • Peroxisome biogenesis disorder 11A, Zellweger (PEX13)
  • Peroxisome biogenesis disorder 11B (PEX13)
  • Peroxisome biogenesis disorder 12A, Zellweger (PEX19)
  • Peroxisome biogenesis disorder 13A, Zellweger (PEX14)
  • Peroxisome biogenesis disorder 14B (PEX11B)
  • Peroxisome biogenesis disorder 1A, Zellweger (PEX1)
  • Peroxisome biogenesis disorder 1B, NALD
  • Peroxisome biogenesis disorder 2A, Zellweger (PEX5)
  • Peroxisome biogenesis disorder 2B (PEX5)
  • Peroxisome biogenesis disorder 3A, Zellweger (PEX12)
  • Peroxisome biogenesis disorder 3B (PEX12)
  • Peroxisome biogenesis disorder 4A, Zellweger (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A, Zellweger (PEX2)
  • Peroxisome biogenesis disorder 5B (PEX2)
  • Peroxisome biogenesis disorder 6A, Zellweger (PEX10)
  • Peroxisome biogenesis disorder 6B (PEX10)
  • Peroxisome biogenesis disorder 7A, Zellweger (PEX26)
  • Peroxisome biogenesis disorder 7B (PEX26)
  • Peroxisome biogenesis disorder 8A, Zellweger (PEX16)
  • Peroxisome biogenesis disorder 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Perrault syndrome 4 (LARS2)
  • Phenylketonuria (PAH)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (TYROBP)
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 (TREM2)
  • Polyglucosan body disease, adult form (GBE1)
  • Proteasome-associated autoinflammatory syndrome 1 + digenic forms (PSMB8)
  • Refsum disease (PHYH)
  • STING-associated vasculopathy, infantile-onset (STING1)
  • Salla disease (SLC17A5)
  • Sandhoff disease, infantile, juvenile + adult forms (HEXB)
  • Singleton-Merten syndrome 1 (IFIH1)
  • Singleton-Merten syndrome 2 (DDX58)
  • Sjogren-Larsson syndrome (ALDH3A2)
  • Spastic paraplegia 10, AD (KIF5A)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 15, AR (ZFYVE26)
  • Spastic paraplegia 2, XL (PLP1)
  • Spastic paraplegia 35, AR (FA2H)
  • Spastic paraplegia 44, AR (GJC2)
  • Spondyloenchondrodysplasia with immune dysregulation (ACP5)
  • Tay-Sachs disease (HEXA)
  • Thromboembolism, susceptibility to (MTHFR)
  • Treacher Collins syndrome 3 (POLR1C)
  • Vasculopathy, retinal, cerebral leukoencephalopathy + systemic manifestations (TREX1)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Mult
  • XL
  • XLD
  • XLR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
A81.2

Bioinformatik und klinische Interpretation

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