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ErkrankungNeuropathie, hereditäre mit Neigung zu Drucklähmungen - HNPP; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre mit Neigung zu Drucklähmungen - HNPP, mit einem Leitlinien-kuratierten und zusammen genommen 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose (weitere CMT-Gene ggf. in DD berücksichtigen)

ID
NP1321
Anzahl Gene
26 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,5 kb (Core-/Basis-Gene)
53,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

X

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
PMP22483AD und/oder AR
ABCD12238XLR
ABHD121197AR
ARSA1530AR
CAV3456AD und/oder Ass
CRYAB528AD
DES1413AD und/oder AR
DNAJB6981AD
DYSF6243AR
FLNC8178AD
FXN633AR und/oder Ass
GNE2262AD und/oder AR
LDB3852AD
MATR32544AD
MYH75808AD und/oder AR und/oder Dig
MYOT1497AD
PEX7972AR
PHYH1017AR
PLP1834XLR
SCN9A5934AD und/oder AR
SEPTIN92223AD
SPART2001AR
TCAP504AD und/oder AR
TIA11161AD und/oder AR
TTR444AD
TYMP1449AR

Infos zur Erkrankung

Klinischer Kommentar

Klin

 

Synonyme
  • Neuropathy, recurrent, with pressure palsies (PMP22)
  • Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
  • Allelic: Cardiomyopathy, dilated, 1G (TTN)
  • Allelic: Cardiomyopathy, dilated, 1I (DES)
  • Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
  • Allelic: Cardiomyopathy, dilated, 1S (MYH7)
  • Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
  • Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
  • Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
  • Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
  • Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
  • Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
  • Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
  • Allelic: Cataract 16, multiple types (CRYAB)
  • Allelic: Creatine phosphokinase, elevated serum (CAV3)
  • Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
  • Allelic: Gnathodiaphyseal dysplasia (ABHD12)
  • Allelic: Left ventricular noncompaction 3 (LDB3)
  • Allelic: Left ventricular noncompaction 5 (MYH7)
  • Allelic: Long QT syndrome 9 (CAV3)
  • Allelic: Muscular dystrophy, limb-girdle, AR 12 (ANO5)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Allelic: Sialuria (GNE)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1)
  • Amyloidosis, hereditary, transthyretin-related (TTR)
  • Amyotrophic lateral sclerosis 21 (MATR3)
  • Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
  • Amyotrophy, hereditary neuralgic (SEPTIN9)
  • Carpal tunnel syndrome, familial (TTR)
  • Charcot-Marie-Tooth disease, type 1A (PMP22)
  • Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Dejerine-Sottas disease (PMP22)
  • Dent disease 2 (OCRL)
  • Erythermalgia, primary (SCN9A)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Insensitivity to pain, congenital (SCN9A)
  • Laing distal myopathy (MYH7)
  • Lowe syndrome (OCRL)
  • Metachromatic leukodystrophy (ARSA)
  • Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
  • Miyoshi muscular dystrophy 1 (DYSF)
  • Miyoshi muscular dystrophy 3 (ANO5)
  • Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
  • Muscular dystrophy, limb-girdle, AR 10 (TTN)
  • Muscular dystrophy, limb-girdle, AR 2 (DYSF)
  • Muscular dystrophy, limb-girdle, AR 7 (TCAP)
  • Myopathy, distal, 4 (FLNC)
  • Myopathy, distal, Tateyama type (CAV3)
  • Myopathy, distal, with anterior tibial onset (DYSF)
  • Myopathy, myofibrillar, 1 (DES)
  • Myopathy, myofibrillar, 2 (CRYAB)
  • Myopathy, myofibrillar, 3 (MYOT)
  • Myopathy, myofibrillar, 4 (LDB3)
  • Myopathy, myofibrillar, 5 (FLNC)
  • Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
  • Myopathy, myosin storage, AD + AR (MYH7)
  • Myopathy, spheroid body (MYOT)
  • Nemaline myopathy 2, AR (NEB)
  • Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
  • Neuropathy, inflammatory demyelinating (PMP22)
  • Nonaka myopathy (GNE)
  • Paroxysmal extreme pain disorder (SCN9A)
  • Pelizaeus-Merzbacher disease (PLP1)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
  • Refsum disease (PHYH)
  • Rippling muscle disease 2 (CAV3)
  • Roussy-Levy syndrome (PMP22)
  • Salih myopathy (TTN)
  • Scapuloperoneal syndrome, myopathic type (MYH7)
  • Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
  • Small fiber neuropathy (SCN9A)
  • Spastic paraplegia 2, XL (PLP1)
  • Tibial muscular dystrophy, tardive (TTN)
  • Troyer syndrome (SPART)
  • Welander distal myopathy (TIA1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder Ass
  • AR
  • AR und/oder Ass
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G60.-

Bioinformatik und klinische Interpretation

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