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Klinische FragestellungNeuropathie, hereditär, infantil/juvenil; Differentialdiagnose

Auftragsschein Klin. Fragestellung
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Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre motorische, infantile/juvenile, mit 7 Leitlinien-kuratierten "core" Genen bzw. zusammen genommen 85 Leitlinien-kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
NP3344
Anzahl Gene
86 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
9,7 kb (Core-/Core-canditate-Gene)
215,1 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
GDAP11077NM_018972.4AD, AR
GJB1852NM_000166.6XL
HINT1381NM_005340.7AR
MFN22274NM_014874.4AD, AR
MPZ747NM_000530.8AD
PMP22483NM_000304.4AD
SH3TC23867NM_024577.4AD, AR
AARS12927NM_001605.3AD
AGTPBP13561NM_015239.3AR
AIFM11842NM_004208.4XLR
ATP1A13072NM_000701.8AD
ATP7A4503NM_000052.7XLR
BICD22568NM_001003800.2AR
BSCL21197NM_032667.6AD
CHCHD10429NM_213720.3AR
CNTNAP14155NM_003632.3AR
COX6A1330NM_004373.4AR
CTDP12529NM_004715.5AR
DCAF81794NM_015726.4AD
DCTN13837NM_004082.5AD
DGAT21207NM_001253891.2AD
DHTKD12760NM_018706.7AD
DNAJB2834NM_001039550.2AR
DNM22613NM_001005360.3AD
DRP22640NM_001171184.2XL
DYNC1H113941NM_001376.5AD
EGR21431NM_000399.5AD
FBLN51347NM_006329.4AR
FBXO382832NM_001271723.2AD
FGD42301NM_139241.3AR
FIG42724NM_014845.6AD, AR
GAN1794NM_022041.4AR
GARS12220NM_002047.4AD
GNB41023NM_021629.4AD
HARS11530NM_002109.6AD
HK12754NM_000188.3AR
HSPB1618NM_001540.5AD
HSPB3453NM_006308.3AD
HSPB8591NM_014365.3AD
IGHMBP22982NM_002180.3AR
INF23750NM_022489.4AD
KARS11940NM_001130089.2AD, AR
KIF1B5313NM_015074.3AD
KIF5A3099NM_004984.4AD, AR
LITAF486NM_004862.4AD
LMNA1995NM_170707.4AR
LRSAM12172NM_138361.5AD, AR
MARS12703NM_004990.3AD
MCM3AP5943NM_003906.5AR
MED252244NM_030973.4AR
MME2253NM_007289.4AD, AR
MORC23140NM_014941.3AD
MPV17531NM_002437.5AR
MTMR21932NM_016156.6AR
MTRFR501NM_152269.5AR
MYH145988NM_024729.4AD
NAGLU2232NM_000263.4AD
NEFH3063NM_021076.4AD
NEFL1633NM_006158.5AD, AR
PDK31248NM_001142386.3XL
PLEKHG53189NM_020631.6AR
PMP2403NM_002677.5AD
PNKP1566NM_007254.4AR
PRPS1957NM_002764.4XL
PRX4386NM_181882.3AR
RAB7A624NM_004637.6AD
REEP1606NM_022912.3AR
SACS13740NM_014363.6AR
SBF15682NM_002972.4AR
SBF25550NM_030962.4AR
SCO2801NM_005138.3AR
SETX8034NM_015046.7AD
SIGMAR1672NM_005866.4AD
SLC25A461257NM_138773.4AR
SLC5A71743NM_021815.5AD
SORD1074NM_003104.6AR
SPG117332NM_025137.4AR
SURF1903NM_003172.4AR
TFG1203NM_006070.6AD, AR
TRIM22235NM_001130067.2AR
TRPV42616NM_021625.5AD
TTR444NM_000371.4AD
TUBB31353NM_006086.4AD
VCP2421NM_007126.5AD
WARS11451AD
YARS11587NM_003680.3AD

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • Alias: Charcot-Marie-Tooth disease
  • Alias: Distal hereditary motor neuropathy
  • Alias: Distal spinal muscular atrophy
  • Alias: Distale spinale Muskelatrophie (DSMA)
  • Alias: Polyneuropathie
  • Allelic: Alpha-aminoadipic + alpha-ketoadipic aciduria (DHTKD1)
  • Allelic: Arts syndrome (PRPS1)
  • Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
  • Allelic: Centronuclear myopathy 1 (DNM2)
  • Allelic: Combined oxidative phosphorylation deficiency 6 (AIFM1)
  • Allelic: Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
  • Allelic: Cutis laxa, AD 2 (FBLN5)
  • Allelic: Cutis laxa, AR, type IA (FBLN5)
  • Allelic: Deafness, AD 4A (MYH14)
  • Allelic: Deafness, AR 89 (KARS1)
  • Allelic: Deafness, XL 1 (PRPS1)
  • Allelic: Deafness, XL 5 (AIFM1)
  • Allelic: Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (CHCHD10)
  • Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
  • Allelic: Glomerulosclerosis, focal segmental, 5 (INF2)
  • Allelic: Gout, PRPS-related (PRPS1)
  • Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
  • Allelic: Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VVCP)
  • Allelic: Interstitial lung + liver disease (MARS1)
  • Allelic: Lethal congenital contracture syndrome 5 (DNM2)
  • Allelic: Lethal congenital contracture syndrome 7 (CNTNAP1)
  • Allelic: Lipodystrophy, congenital generalized, type (BSCL2)
  • Allelic: Macular degeneration, age-related, 3 (FBLN5)
  • Allelic: Menkes disease (ATP7A)
  • Allelic: Mental retardation, AD 13 (DYNC1H1)
  • Allelic: Microcephaly, seizures + developmental delay (PNKP)
  • Allelic: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type (MPV17)
  • Allelic: Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
  • Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
  • Allelic: Myoclonus, intractable, neonatal (KIF5A)
  • Allelic: Myopathy, isolated mitochondrial, AD (CHCHD10)
  • Allelic: Myopia 6 (SCO2)
  • Allelic: Neuroblastoma, susceptibility to, 1 (KIF1B)
  • Allelic: Occipital horn syndrome (ATP7A)
  • Allelic: Perry syndrome (DCTN1)
  • Allelic: Pheochromocytoma (KIF1B)
  • Allelic: Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
  • Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
  • Allelic: Pontocerebellar hypoplasia, type 1E (SIGMAR1)
  • Allelic: Retinitis pigmentosa 79 (HK1)
  • Allelic: Silver spastic paraplegia syndrome (BSCL2)
  • Allelic: Usher syndrome type 3B (HARS1)
  • Allelic: Yunis-Varon syndrome (FIG4)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Amyotrophic lateral sclerosis 11 (FIG4)
  • Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
  • Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Amyotrophic lateral sclerosis 5, juvenile (SSPG11)
  • Amyotrophic lateral sclerosis, susceptibility to (NEFH)
  • Amyotrophic lateral sclerosis, susceptibility to, 25 (KIF5A)
  • Basel-Vanagait-Smirin-Yosef syndrome (MED25)
  • Carpal tunnel syndrome, familial (TTR)
  • Charcot-Marie-Tooth disease, DI B (DNM2)
  • Charcot-Marie-Tooth disease, DI C (YARS1)
  • Charcot-Marie-Tooth disease, DI D (MPZ)
  • Charcot-Marie-Tooth disease, DI E (INF2)
  • Charcot-Marie-Tooth disease, DI F (GNB4)
  • Charcot-Marie-Tooth disease, DI G (NEFL)
  • Charcot-Marie-Tooth disease, RI A (GDAP1)
  • Charcot-Marie-Tooth disease, RI C (PLEKHG5)
  • Charcot-Marie-Tooth disease, RI D (COX6A1)
  • Charcot-Marie-Tooth disease, RI, B (KARS1)
  • Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
  • Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
  • Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2CC (NEFH)
  • Charcot-Marie-Tooth disease, axonal, type 2DD (ATP1A1)
  • Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
  • Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
  • Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
  • Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
  • Charcot-Marie-Tooth disease, axonal, type 2M (DNM2)
  • Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
  • Charcot-Marie-Tooth disease, axonal, type 2P (LRSAM1)
  • Charcot-Marie-Tooth disease, axonal, type 2Q (DHTKD1)
  • Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
  • Charcot-Marie-Tooth disease, axonal, type 2T (MME)
  • Charcot-Marie-Tooth disease, axonal, type 2U (MARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
  • Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
  • Charcot-Marie-Tooth disease, axonal, type 2Z (MORC2)
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
  • Charcot-Marie-Tooth disease, demyelinating, type 1G (PMP2)
  • Charcot-Marie-Tooth disease, type 1A (PMP22)
  • Charcot-Marie-Tooth disease, type 1B (MPZ)
  • Charcot-Marie-Tooth disease, type 1C (LITAF)
  • Charcot-Marie-Tooth disease, type 1D (EGR2)
  • Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Charcot-Marie-Tooth disease, type 1F (NEFL)
  • Charcot-Marie-Tooth disease, type 2A1 (KIF1B)
  • Charcot-Marie-Tooth disease, type 2A? (DGAT2)
  • Charcot-Marie-Tooth disease, type 2B (RAB7)
  • Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Charcot-Marie-Tooth disease, type 2B2 (PNKP)
  • Charcot-Marie-Tooth disease, type 2D (GARS1)
  • Charcot-Marie-Tooth disease, type 2E (NEFL)
  • Charcot-Marie-Tooth disease, type 2I (MPZ)
  • Charcot-Marie-Tooth disease, type 2J (MPZ)
  • Charcot-Marie-Tooth disease, type 2R (TRIM2)
  • Charcot-Marie-Tooth disease, type 2Y (VCP)
  • Charcot-Marie-Tooth disease, type 4A (GDAP1)
  • Charcot-Marie-Tooth disease, type 4B1 (MTMR2)
  • Charcot-Marie-Tooth disease, type 4B2 (SBF2)
  • Charcot-Marie-Tooth disease, type 4B3 (SBF1)
  • Charcot-Marie-Tooth disease, type 4C (SH3TC2)
  • Charcot-Marie-Tooth disease, type 4F (PRX)
  • Charcot-Marie-Tooth disease, type 4H (FGD4)
  • Charcot-Marie-Tooth disease, type 4J (FIG4)
  • Charcot-Marie-Tooth disease, type 4K (SURF1)
  • Charcot-Marie-Tooth neuropathy, XLD, 1 (GJB1)
  • Charcot-Marie-Tooth neuropathy, XLI (DRP2)
  • Combined oxidative phosphorylation deficiency 7 (MTRFR syn. C12orf65)
  • Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
  • Cowchock syndrome (AIFM1)
  • Dejerine-Sottas disease (EGR2, MPZ, PMP22, PRX)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Developmental delay, impaired growth, dysmorphic facies, axonal neuropathy (MORC2)
  • Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
  • Giant axonal neuropathy 1 (GAN)
  • Giant axonal neuropathy 2, AD (DCAF8)
  • Hereditary motor + sensory neuropathy VIA (MFN2)
  • Hereditary motor + sensory neuropathy, Okinawa type (TFG)
  • Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Hypomagnesemia, seizures + mental retardation 2 (ATP1A1)
  • Hypomyelinating neuropathy, congenital, 1 (EGR2)
  • Hypomyelinating neuropathy, congenital, 2 (MPZ)
  • Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
  • Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS1)
  • Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
  • Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
  • Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
  • Mononeuropathy of the median nerve, mild (SH3TC2)
  • Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
  • Neurodegeneration, childhood-onset, with cerebellar atrophy (AGTPBP1)
  • Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
  • Neuromyotonia + axonal neuropathy, AR (HINT1)
  • Neuronopathy, distal hereditary motor, type IIA (HSPB8)
  • Neuronopathy, distal hereditary motor, type IIB (HSPB1)
  • Neuronopathy, distal hereditary motor, type IIC (HSPB3)
  • Neuronopathy, distal hereditary motor, type IID (FBXO38)
  • Neuronopathy, distal hereditary motor, type IX (WARS)
  • Neuronopathy, distal hereditary motor, type VA (GARS1)
  • Neuronopathy, distal hereditary motor, type VB (REEP1)
  • Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
  • Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
  • Neuronopathy, distal hereditary motor, type VIIB (DCTN1)
  • Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Neuropathy, distal hereditary motor, type VA (BSCL2)
  • Neuropathy, hereditary motor + sensory, Russe type (HK1)
  • Neuropathy, hereditary motor + sensory, type VIB (SIGMAR1)
  • Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
  • Neuropathy, inflammatory demyelinating (PMP22)
  • Neuropathy, recurrent, with pressure palsies (PMP22)
  • Peripheral neuropathy, AR, with/-out impaired intellectual development (MCM3AP)
  • Peripheral neuropathy, myopathy, hoarseness + hearing loss (MYH14)
  • Roussy-Levy syndrome (MPZ, PMP22)
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Spastic paraplegia 10, AD (KIF5A)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 31, AD (REEP1)
  • Spastic paraplegia 55, AR (MTRFR syn. C12orf65)
  • Spastic paraplegia 57, AR (TFG)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
  • Spinal muscular atrophy, distal, AR, 2 (SLC25A46)
  • Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
  • Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
  • Spinal muscular atrophy, distal, XL 3 (ATP7A)
  • Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
  • Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
  • Spinocerebellar ataxia 43 (MME)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
  • Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt

Laboranforderung

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.