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ErkrankungNeuropathie, CMT1/-4 / HMSNI/-IV, demyelinisierend, AD/AR; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre motorisch-sensorische, demyelinisierend (CMT1/-4), mit 16 Leitlinien-kuratierten und zusammen genommen 17 Genen gemäß klinischer Verdachtsdiagnose

ID
NP6734
Anzahl Gene
17 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
37,2 kb (Core-/Basis-Gene)
37,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
EGR21431AD und/oder AR
FGD42301AR
FIG42724AD und/oder AR
GDAP11077AD und/oder AR und/oder Dig
HK12754AD und/oder AR
LITAF486AD
MPZ747AD und/oder AR
MTMR21932AR
NDRG11185AR
NEFL1633AD und/oder AR
PMP22483AD und/oder AR
PRX4386AD und/oder AR
SBF15682AR
SBF25550AR
SH3TC23867AD und/oder AR
SURF1903AR
PMP2403AD

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • Alias: CMT1/-4
  • Alias: HMSNI/-IV
  • Alias: Polyneuropathie
  • Alias: Polyneuropathy
  • Allelic: Amyotrophic lateral sclerosis 11 (FIG4)
  • Allelic: Centronuclear myopathy 1 (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, type 2E (NEFL)
  • Allelic: Charcot-Marie-Tooth disease, type 2I (MPZ)
  • Allelic: Charcot-Marie-Tooth disease, type 2J (MPZ)
  • Allelic: Cutis laxa, AD 2 (FBLN5)
  • Allelic: Cutis laxa, AR, type IA (FBLN5)
  • Allelic: Deafness, AR 89 (KARS1)
  • Allelic: Glomerulosclerosis, focal segmental, 5 (INF2)
  • Allelic: Lethal congenital contracture syndrome 5 (DNM2)
  • Allelic: Lethal congenital contracture syndrome 7 (CNTNAP1)
  • Allelic: Leukoencephalopathy, progressive, infantile-onset, with/-out deafness (KARS1)
  • Allelic: Macular degeneration, age-related, 3 (FBLN5)
  • Allelic: Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
  • Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
  • Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
  • Allelic: Retinitis pigmentosa 79 (HK1)
  • Allelic: Roussy-Levy syndrome (MPZ)
  • Allelic: Roussy-Levy syndrome (PMP22)
  • Allelic: Spinal muscular atrophy, distal, autosomal recessive, 4 (PLEKHG5)
  • Allelic: Yunis-Varon syndrome (FIG4)
  • 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, B (KARS1)
  • Charcot-Marie-Tooth disease, RI, C (PLEKHG5)
  • Charcot-Marie-Tooth disease, RI, D (COX6A1)
  • Charcot-Marie-Tooth disease, XLI [OMIM: CMTX1] (DRP2)
  • Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Charcot-Marie-Tooth disease, demyelinating, type 1G (PMP2)
  • Charcot-Marie-Tooth disease, demyelinating, type 1H (FBLN5)
  • 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 4A (GDAP1)
  • Charcot-Marie-Tooth disease, type 4B1 (MTMR1)
  • Charcot-Marie-Tooth disease, type 4B2 (SBF2)
  • Charcot-Marie-Tooth disease, type 4B3 (SBF1)
  • Charcot-Marie-Tooth disease, type 4C (SBF2)
  • Charcot-Marie-Tooth disease, type 4D ["Gypsy"] (NDRG1)
  • Charcot-Marie-Tooth disease, type 4E (EGR2, MPZ)
  • 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)
  • Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
  • Deafness, congenital + adult-onset progressive leukoencephalopathy (KARS1)
  • Dejerine-Sottas disease (EGR2, MPZ, PMP22, PRX)
  • Hemolytic anemia due to hexokinase deficiency (HK1)
  • Hypomyelinating neuropathy, congenital, 1 (EGR2)
  • Hypomyelinating neuropathy, congenital, 2 (MPZ)
  • Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
  • Infantile-onset multisystem neurologic, endocrine + pancreatic disease 2 (YARS1)
  • Mononeuropathy of the median nerve, mild (SBF2)
  • Neuropathy, hereditary motor + sensory, Russe type (HK1)
  • Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
  • Neuropathy, inflammatory demyelinating (PMP22)
  • Neuropathy, recurrent, with pressure palsies (PMP22)
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G60.0

Bioinformatik und klinische Interpretation

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