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Klinische FragestellungNeuropathie, hereditäre sensorische und autonome Typ 2; Differentialdiagnostik
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre sensorische und autonome Typ 2, mit 18 Leitlinien-kuratierten bzw. zusammen genommen 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
NP1234
Anzahl Gene
20
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
19,7 kb (Core-/Core-canditate-Gene)
78,2 kb (Erweitertes Panel: inkl. additional genes)
78,2 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 |
|---|---|---|---|---|
| KIF1A | 5073 | NM_004321.8 | AR, AD | |
| RETREG1 | 1494 | NM_001034850.3 | AR | |
| SCN9A | 5934 | NM_002977.3 | AD, AR | |
| WNK1 | 7149 | NM_018979.4 | AR | |
| ATL1 | 1677 | NM_015915.5 | AD | |
| ATL3 | 1626 | NM_015459.5 | AD | |
| CLTCL1 | 4752 | NM_007098.4 | AR | |
| DNMT1 | 4899 | NM_001130823.3 | AD | |
| DST | 17028 | NM_001723.7 | AR | |
| ELP1 | 3999 | NM_003640.5 | AR | |
| FAAH | 1740 | NM_001441.3 | Sus | |
| FLVCR1 | 1668 | NM_014053.4 | AR | |
| NGF | 726 | NM_002506.3 | AR | |
| NTRK1 | 2373 | NM_001012331.2 | AR | |
| PRDM12 | 1109 | NM_021619.3 | AR | |
| RAB7A | 624 | NM_004637.6 | AD | |
| SCN11A | 5376 | NM_014139.3 | AD | |
| SPTLC1 | 1422 | NM_006415.4 | AD | |
| SPTLC2 | 1689 | NM_004863.4 | AD | |
| ZFHX2 | 7765 |
| NM_033400.3 | AD |
Infos zur Erkrankung
Synonyme
- Alias: Hereditäre sensibel-autonome Neuropathie, HSAN, Typ II
- Alias: Hereditäre sensible und autonome Neuropathie, HSAN
- Alias: Polyneuropathie
- Alias: Sensory and autonomic neuropathy type 2, HSAN2, HSANII
- Allelic: Drug addiction, susceptibility to (FAAH)
- Allelic: Epidermolysis bullosa simplex, AR 2 (DST)
- Allelic: Erythermalgia, primary (SCN9A)
- Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
- Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
- Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
- Charcot-Marie-Tooth disease, type 2B (RAB7A)
- Dysautonomia, familial (ELP1)
- Episodic pain syndrome, familial, 3 (SCN11A)
- Insensitivity to pain, congenital (SCN9A)
- Insensitivity to pain, congenital, with anhidrosis (NTRK1)
- Insensitivity to pain, healing [panelapp] (FAAH)
- Marsili syndrome (ZFHX2)
- NESCAV syndrome (KIF1A)
- Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
- Neuropathy, hereditary sensory + autonomic, type IC (SPTLC2)
- Neuropathy, hereditary sensory + autonomic, type II (WNK1)
- Neuropathy, hereditary sensory + autonomic, type IIB (RETREG1)
- Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
- Neuropathy, hereditary sensory + autonomic, type V (NGF)
- Neuropathy, hereditary sensory + autonomic, type VI (DST)
- Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
- Neuropathy, hereditary sensory + autonomic, type VIII (PRDM12)
- Neuropathy, hereditary sensory, type ID (ATL1)
- Neuropathy, hereditary sensory, type IE (DNMT1)
- Neuropathy, hereditary sensory, type IF (ATL3)
- Neuropathy, hereditary sensory, type IIC (KIF1A)
- Paroxysmal extreme pain disorder (SCN9A)
- Small fiber neuropathy (SCN9A)
- Spastic paraplegia 30, AD, AR (KIF1A)
- Spastic paraplegia 3A, AD (ATL1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- Sus
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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