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

AP1150

Anzahl Gene

8 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

16,6 kb (Core-/Core-canditate-Gene)
22,4 kb (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

EDTA-Blut (3-5 ml)

Diagnostische Hinweise

NGS +

Genpanel

Ausgewählte Gene

Name	Exon-Länge (bp)	OMIM-G	Referenz-Seq.	Erbgang
ATP1A3	3042	182350	NM_152296.5	AD
DIAPH3	3582	614567	NM_001042517.2	AD
OPA1	2883	605290	NM_015560.3	AD
OTOF	5994	603681	NM_194248.3	AR
PJVK	1059	610219	NM_001042702.5	AR
AIFM1	1842	300169	NM_004208.4	XLR
PHYH	1017	602026	NM_006214.4	AR
ROR1	2935	602336	NM_001083592.2	AR

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatik und klinische Interpretation

Kein Text hinterlegt