English
Klinische FragestellungNeuropathie, hereditäre sensible + autonome, infantile/juvenile; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Neuropathie, hereditäre sensible + autonome, infantile/juvenile, mit 17 Leitlinien-kuratierten Genen sowie insgesamt 26 kuratierten Genen
ID
NP6655
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
42,7 kb (Core-/Core-canditate-Gene)
62,9 kb (Erweitertes Panel: inkl. additional genes)
62,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ATL1 | 1677 | NM_015915.5 | AD | |
| DST | 17028 | NM_001723.7 | AR | |
| ELP1 | 3999 | NM_003640.5 | AR | |
| KIF1A | 5073 | NM_004321.8 | AR, AD | |
| NGF | 726 | NM_002506.3 | AR | |
| NTRK1 | 2373 | NM_001012331.2 | AR | |
| RETREG1 | 1494 | NM_001034850.3 | AR | |
| SPTLC1 | 1422 | NM_006415.4 | AD | |
| SPTLC2 | 1689 | NM_004863.4 | AD | |
| WNK1 | 7149 | NM_018979.4 | AR | |
| ARL6IP1 | 612 | NM_015161.3 | AR | |
| ATL3 | 1626 | NM_015459.5 | AD | |
| DNMT1 | 4899 | NM_001130823.3 | AD | |
| GLA | 1290 | NM_000169.3 | XL | |
| SCN11A | 5376 | NM_014139.3 | AD | |
| SCN9A | 5934 | NM_002977.3 | AD, AR | |
| TTR | 444 | NM_000371.4 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen
Synonyme
- Alias: HSAN, HSN
- Alias: Hereditäre sensibel-autonome Neuropathie, HSAN, infantile/juvenile
- Alias: Hereditäre sensible und autonome Neuropathie, HSAN, infantile/juvenile
- Alias: Polyneuropathie
- Alias: Sensory and autonomic neuropathy type 2, HSAN, HSAN, infantile/juvenile
- Allelic: Carpal tunnel syndrome, familial (TTR)
- Allelic: Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
- Allelic: Dysautonomia, familial (ELP1)
- Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
- Allelic: Epidermolysis bullosa simplex, AR 2 (DST)
- Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
- Allelic: Fabry disease, cardiac variant (GLA)
- Allelic: NESCAV syndrome (KIF1A)
- Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
- Allelic: Spastic paraplegia 30, AD + AR (KIF1A)
- Allelic: Spastic paraplegia 3A, AD (ATL1)
- Achalasia-addisonianism-alacrimia syndrome (AAAS)
- Alacrima, achalasia + mental retardation syndrome (GMPPA)
- Amyloidosis, hereditary, transthyretin-related (TTR)
- Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
- Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
- Episodic pain syndrome, familial, 2 (SCN10A)
- Fabry disease (GLA)
- Insensitivity to pain, congenital, with anhidrosis (NTRK1)
- Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
- Neuropathy, hereditary [panelapp] (CLTCL1)
- 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 syn. FAM134B)
- 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)
- Neuropathy, hereditary sensory, with spastic paraplegia (CCT5)
- Spastic paraplegia 61, AR (ARL6IP1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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