IllnessNeuropathy, auditory; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Neuropathy, auditory comprising 11 guideline-curated and altogether 14 curated genes according to the clinical signs
ID
AP1150
Number of genes
8
Accredited laboratory test
Examined sequence length
16,6 kb (Core-/Core-canditate-Genes)
22,4 kb (Extended panel: incl. additional genes)
22,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
ORPHA:90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHA:90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:502318 Cochlear nerve deficiency
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined