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

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Summary

Short information

DP6699a_KI

ID
DP6699
Number of loci
Loci typeCount
Gen30
Accredited laboratory test
Examined sequence length
52,2 kb (Core-/Core-canditate-Genes)
62,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ASAH11188NM_177924.5AR
ATP7A4503NM_000052.7XLR
BICD22568NM_001003800.2XLR
BSCL21197NM_032667.6AD
CHCHD10429NM_213720.3AD
DNAJB2834NM_001039550.2AR
DYNC1H113941NM_001376.5AD
EXOSC3828NM_016042.4AR
EXOSC8831NM_181503.3AR
FBXO382832NM_001271723.2AD
GARS12220NM_002047.4AD
HSPB8591NM_014365.3AD
IGHMBP22982NM_002180.3AR
PLEKHG53189NM_020631.6AR
REEP1606NM_022912.3AR
SLC5A11995NM_000343.4AR
SMN1885NM_000344.4AR
TFG1203NM_006070.6AR, AD
TRPV42616NM_021625.5AD
TSEN541581NM_207346.3AR
UBA13177NM_003334.4XLR
VAPB732NM_004738.5AD
VRK11191NM_003384.3AR
AARS12927NM_001605.3AD
DCTN13837NM_004082.5AD
HARS11530NM_002109.6AD
HINT1381NM_005340.7AR
HSPB1618NM_001540.5AD
HSPB3453NM_006308.3AD
PMP22483NM_000304.4AD

Informations about the disease

Clinical Comment

Gruppe von Erkrankungen

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined

Laboratory requirement

  • 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.