English
Klinische FragestellungSmall-fiber-Neuropathie, SFN; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein umfassendes differentialdiagnostisches panel für Small-fiber-Neuropathie, SFN, mit 12 Leitlinien-kuratierten Genen
ID
SP9988
Anzahl Loci
| Loci-Typ | Anzahl |
|---|---|
| Gen | 12 |
Untersuchte Sequenzlänge
20,6 kb (Core-/Core-canditate-Gene)
34,3 kb (Erweitertes Panel: inkl. additional genes)
34,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
SP9988_DH
Locipanel
Gen
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| SCN10A | 5871 | NM_006514.4 | AD | |
| SCN11A | 5376 | NM_014139.3 | AD | |
| SCN9A | 5934 | NM_002977.3 | AD, AR | |
| TRPA1 | 3360 | NM_007332.3 | AD | |
| ATL1 | 1677 | NM_015915.5 | AD | |
| ATL3 | 1626 | NM_015459.5 | AD | |
| DNMT1 | 4899 | NM_001130823.3 | AD | |
| GLA | 1290 | NM_000169.3 | XL | |
| RAB7A | 624 | NM_004637.6 | AD | |
| SPTLC1 | 1422 | NM_006415.4 | AD | |
| SPTLC2 | 1689 | NM_004863.4 | AD | |
| TTR | 444 | NM_000371.4 | AD |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_SP9988
Synonyme
- Alias: Natrium-Ionenkanalkrankheit-assoziierte Small-Fiber-Neuropathie, SFN
- Alias: Ulcero-mutilating neuropathy (RAB7A)
- Allelic: Carpal tunnel syndrome, familial (TTR)
- Allelic: Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
- Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
- Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
- Allelic: Fabry disease, cardiac variant (GLA)
- Allelic: Spastic paraplegia 3A, AD (ATL1)
- Amyloidosis, hereditary, transthyretin-related (TTR)
- Charcot-Marie-Tooth disease, type 2B (RAB7A)
- Episodic pain syndrome, familial, 1 (TRPA1)
- Episodic pain syndrome, familial, 2 (SCN10A)
- Erythermalgia, primary (SCN9A)
- Fabry disease (GLA)
- Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
- Neuropathy, hereditary sensory + autonomic, type IC (SPTLC2)
- Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
- Neuropathy, hereditary sensory, type ID (ATL1)
- Neuropathy, hereditary sensory, type IE (DNMT1)
- Neuropathy, hereditary sensory, type IF (ATL3)
- Small fiber neuropathy (SCN9A)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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