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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
109 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
136,1 kb (Core-/Core-canditate-Gene)
198,7 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-GReferenz-Seq.Erbgang
AARS22958NM_020745.4AR
ABCD12238NM_000033.4XLR
ACP5978NM_001111034.3AR
ADAR2796NM_001111.5AD, AR
ALDH3A21458NM_000382.3AR
ARSA1530NM_000487.6AR
AUH1020NM_001698.3AR
CBS1656NM_000071.3AR
CLCN22697NM_004366.6AR
CLN31317NM_001042432.2AR
CLN51077NM_006493.4AR
CLN6936NM_017882.3AR
CLN8861NM_018941.4AR
COA8797NM_001370595.2AR
COL4A15010NM_001845.6AD, Mult
COL4A25139NM_001846.4AD
CSF1R2919NM_005211.4AD
CTSD1239NM_001909.5AR
CTSF1455NM_003793.4AR
CYP27A11596NM_000784.4AR
DARS21938NM_018122.5AR
DDX582778NM_014314.4AD
DNAJC5597NM_025219.3AD
EIF2B1918NM_001414.4AR
EIF2B21056NM_014239.4AR
EIF2B31359NM_020365.5AR
EIF2B41569NM_015636.4AR
EIF2B52166NM_003907.3AR
FA2H1119NM_024306.5AR
FUCA11401NM_000147.5AR
GALC2058NM_000153.4AR
GAN1794NM_022041.4AR
GBA11611NM_001005741.3AD, AR
GBE12109NM_000158.4AR
GCDH1317NM_000159.4AR
GFAP1299NM_002055.5AD
GJA11149NM_000165.5AD, AR
GJC21320NM_020435.4AR
GLA1290NM_000169.3XL
GLB12034NM_000404.4AR
GRN1782NM_002087.4AD
HEPACAM1251NM_152722.5AD, AR
HEXA1590NM_000520.6AR
HEXB1671NM_000521.4AR
HMGCL978NM_000191.3AR
HTRA11443NM_002775.5AD, AR
IFIH13078NM_022168.4AD
ISG15498NM_005101.4AR
KARS11940NM_001130089.2AR
KCTD7870NM_153033.5AR
L2HGDH1392NM_024884.3AR
LMNB11761NM_005573.4AD
MAN2B13036NM_000528.4AR
MANBA2640NM_005908.4AR
MARS21782NM_138395.4AR
MCOLN11743NM_020533.3AR
MFSD81557NM_152778.3AR
MLC11134NM_015166.4AR
MTHFR1971NM_005957.5AR
NOTCH36966NM_000435.3AD
NPC13837NM_000271.5AR
NPC2456NM_006432.5AR
PEX7972NM_000288.4AR
PHYH1017NM_006214.4AR
PLP1834NM_000533.5XLR
POLR1C1041NM_203290.4AR
POLR3A4173NM_007055.4AR
POLR3B3402NM_018082.6AR
PPT1921NM_000310.4AR
PSMB8831NM_148919.4AR
RNASEH2A900NM_006397.3AR
RNASEH2B939NM_024570.4AR
RNASEH2C495NM_032193.4AR
SAMHD11881NM_015474.4AR
SLC17A51488NM_012434.5AR
TREM2660NM_001271821.2AR
TREX1945NM_033629.6AD, AR
TUBB4A1335NM_006087.4AD
TYROBP309NM_001173514.2AR
AARS12927NM_001605.3AD
CTC13654NM_025099.6AR
CTSA1497NM_000308.4AR
DARS11506NM_001349.4AR
EARS21572NM_001083614.2AR
GJB1852NM_000166.6XL
MARS12703NM_004990.3AD
OCRL2706NM_000276.4XLR
PAH1359NM_000277.3AR
PEX13852NM_000466.3AR
PEX101041NM_153818.2AR
PEX11B780NM_003846.3AR
PEX121080NM_000286.3AR
PEX131212NM_002618.4AR
PEX141134NM_004565.3AR
PEX161011NM_004813.4AR
PEX19900NM_002857.4AR
PEX2918NM_000318.3AR
PEX26918NM_017929.6AR
PEX31122NM_003630.3AR
PEX51920NM_001131025.2AR
PEX62943NM_000287.4AD, AR
PSAP1575NM_002778.4AR
PTEN1212NM_000314.8AD
RNASET2771NM_003730.6AR
RNF2162772NM_207111.4AR
RPS6KA32223NM_004586.3XL
SPG117332NM_025137.4AR
TYMP1449NM_001953.5AR
ZFYVE267620NM_015346.4AR

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
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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