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ErkrankungNeuropathie, distale hereditäre motorische / Muskelatrophien, distale spinale; Differentialdiagnose

Zusammenfassung

Kurzinformation

DP6699a_KI

ID
DP6699
Anzahl Gene
34 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
61,7 kb (Core-/Basis-Gene)
79,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AARS12927AD und/oder AR
ASAH11188AR
ATP7A4503XLR
BICD22568AD
BSCL21197AD und/oder AR
CHCHD10429AD
DCTN13837AD und/oder AR und/oder Sus
DNAJB2834AR
DYNC1H113941AD
EXOSC3828AR
EXOSC8831AR
FBXO382832AD
GARS12220AD
HARS11530AD und/oder AR
HINT1381AR
HSPB1618AD
HSPB3453AD
HSPB8591AD
IGHMBP22982AR
PLEKHG53189AR
PMP22483AD und/oder AR
REEP1606AD
SLC5A11995AR
SMN1885AR
TFG1203AD und/oder AR
TRPV42616AD
TSEN541581AR
UBA13177XLR
VRK11191AR
MYH145988AD
SETX8034AD und/oder AR
SIGMAR1672AR
SLC5A71743AD und/oder AR
WARS11451AD

Infos zur Erkrankung

Klinischer Kommentar

Group of disorders

 

Synonyme
  • Alias: Distal hereditary motor neuropathy, DHMN
  • Alias: Distal spinal muscular atrophy, DSMA
  • Alias: Polyneuropathie
  • Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
  • Allelic: Amyotrophic lateral sclerosis 4, juvenile (SETX)
  • Allelic: Amyotrophic lateral sclerosis 8 (VAPB)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to (DCNT1)
  • Allelic: Deafness, AD 4A (MYH14)
  • Allelic: Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
  • Allelic: Perry syndrome [parkinsonism, depression, respiratory hypoventilation] (DCNT1)
  • Allelic: Spastic paraplegia 31, AD (REEP1)
  • Allelic: Usher syndrome type 3B (HARS1)
  • Charcot-Marie-Tooth disease, RI C (PLEKHG5)
  • Charcot-Marie-Tooth disease, axonal, type 2F (HSPB1)
  • Charcot-Marie-Tooth disease, axonal, type 2L (HSPB8)
  • Charcot-Marie-Tooth disease, axonal, type 2N (AARS1)
  • Charcot-Marie-Tooth disease, axonal, type 2O (DYNC1H1)
  • Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
  • Charcot-Marie-Tooth disease, axonal, type 2W (HARS1)
  • Charcot-Marie-Tooth disease, type 1A (PMP22)
  • Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Charcot-Marie-Tooth disease, type 2D (GARS1)
  • Dejerine-Sottas disease (PMP22)
  • Developmental + epileptic encephalopathy 29 (AARS1)
  • Glucose/galactose malabsorption (SLC5A1)
  • Hereditary motor + sensory neuropathy, Okinawa type (TFG)
  • Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • 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 (DCNT1)
  • Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Neuropathy, distal hereditary motor, type VA (BSCL2)
  • Neuropathy, inflammatory demyelinating (PMP22)
  • Neuropathy, recurrent, with pressure palsies (PMP22)
  • Peripheral neuropathy, myopathy, hoarseness, hearing loss (MYH14)
  • Pontocerebellar hypoplasia, type 1A (VRK1)
  • Pontocerebellar hypoplasia, type 1B (EXOSC3)
  • Pontocerebellar hypoplasia, type 1C (EXOSC8)
  • Pontocerebellar hypoplasia, type 2A, 4, 5 (TSEN54)
  • Roussy-Levy syndrome (PMP22)
  • Spastic paraplegia 57, AR (TFG)
  • Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Spinal muscular atrophy, Jokela type (CHCHD10)
  • Spinal muscular atrophy, XL 2, infantile (UBA1)
  • Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
  • Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
  • Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
  • Spinal muscular atrophy, distal, XL 3 (ATP7A)
  • Spinal muscular atrophy, late-onset, Finkel type (VAPB)
  • Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Spinal muscular atrophy, lower extremity-predominant, 2A + 2B, AD (BICD2)
  • Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
  • Spinocerebellar ataxia, AR, with axonal neuropathy 2 (SETX)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Sus
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G12.1

Bioinformatik und klinische Interpretation

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