Klinische FragestellungNeuropathie, auditorische; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neuropathie, auditorische, mit 11 Leitlinien-kuratierten bzw. zusammen genommen 14 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP1150
Anzahl Gene
7
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
16,6 kb (Core-/Core-canditate-Gene)
21,4 kb (Erweitertes Panel: inkl. additional genes)
21,4 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Klinischer Kommentar
ORPHA:90636 Autosomal rezessive nicht-syndromische sensorineurale Taubheit Typ DFNB
ORPHA:90635 Autosomal dominante nicht-syndromische sensorineurale Taubheit Typ DFNA
ORPHA:502318 N. Cochlearis Dysfunktion
Synonyme
- Allelic: Alternating hemiplegia of childhood 2 (ATP1A3)
- Allelic: Behr syndrome (OPA1)
- Allelic: Combined oxidative phosphorylation deficiency 6 (AIFM1)
- Allelic: Cowchock syndrome (AIFM1)
- Allelic: Dystonia-12 (ATP1A3)
- Allelic: Fazio-Londe disease (SLC52A3)
- Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
- Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Mitochondrial DNA depletion syndrome 14 [encephalocardiomyopathic type] (OPA1)
- Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
- Allelic: Niemann-Pick disease, type D (NPC1)
- Allelic: Optic atrophy 1 (OPA1)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Allelic: Retinitis pigmentosa 79 (HK1)
- Allelic: Spondyloepimetaphyseal dysplasia, XL, with hypomyelinating leukodystrophy (AIFM1)
- Allelic; Gaucher disease, perinatal lethal (GBA)
- Auditory neuropathy, AD, 1; AUNA1 (DIAPH3)
- Auditory neuropathy, AR, 1 (OTOF)
- Bart-Pumphrey syndrome, sensorin. hear loss, palmoplan. keratoder., knuckle pads, leukonychia (GJB2)
- Brown-Vialetto-Van Laere syndrome 1 (SLC52A3)
- CAPOS syndrome, Cereb. ataxia, Areflexia, Pes cavus, Optic atrophy + Sensorin. hear. loss (ATP1A3)
- Deafness, AD 3A (GJB2)
- Deafness, AR 108 (ROR1)
- Deafness, AR 1A (GJB2)
- Deafness, AR 59 (PJVK)
- Deafness, AR 9 (OTOF)
- Deafness, XL 5 (AIFM1)
- Friedreich ataxia (FXN)
- Friedreich ataxia with retained reflexes (FXN)
- Gaucher disease, type I, II, III, IIIC (GBA)
- Hystrix-like ichthyosis + deafness (GJB2)
- Keratitis-ichthyosis-deafness syndrome (GJB2)
- Keratoderma, palmoplantar + deafness (GJB2)
- Mohr-Tranebjaerg syndrome (TIMM8A)
- Muckle-Wells syndrome; urticaria, deafness, amyloidosis (NLRP3)
- Neuropathy, hereditary motor + sensory, Russe type (HK1)
- Niemann-Pick disease, type C1 (NPC1)
- Optic atrophy plus syndrome (OPA1)
- Refsum disease (PHYH)
- Vohwinkel syndrome (GJB2)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
H90.3
Bioinformatik und klinische Interpretation
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