English
Klinische FragestellungDysautonomie, familiäre; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Dysautonomie, familiäre, mit 1 Leitlinien-kuratierten bzw. zusammen genommen 26 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
DP3648
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
20,7 kb (Core-/Core-canditate-Gene)
58,5 kb (Erweitertes Panel: inkl. additional genes)
58,5 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 |
|---|---|---|---|---|
| AAAS | 1641 | NM_015665.6 | AR | |
| ELP1 | 3999 | NM_003640.5 | AR | |
| GMPPA | 1263 | NM_205847.3 | AR | |
| KIF1A | 5073 | NM_004321.8 | AR, AD | |
| NGF | 726 | NM_002506.3 | AR | |
| NTRK1 | 2373 | NM_001012331.2 | AR | |
| PHOX2B | 945 | NM_003924.4 | AD | |
| RETREG1 | 1494 | NM_001034850.3 | AR | |
| SPTLC1 | 1422 | NM_006415.4 | AD | |
| SPTLC2 | 1689 | NM_004863.4 | AD | |
| DST | 17028 | NM_001723.7 | AR | |
| PRDM12 | 1109 | NM_021619.3 | AR | |
| PRNP | 762 | NM_000311.5 | AD | |
| SCN11A | 5376 | NM_014139.3 | AD | |
| SCN9A | 5934 | NM_002977.3 | AR | |
| TTR | 444 | NM_000371.4 | AD | |
| WNK1 | 7149 | NM_018979.4 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Sensorische + autonome Neuropathie mit verminderter Schmerz- + Temperaturwahrnehmung, fehlende tiefe Sehnenreflexe, propriozeptive Ataxie, afferentes Baroreflexversagen + progressive Optikusneuropathie
Synonyme
- Allelic: Medulloblastoma (ELP1)
- Alacrima, achalasia, mental retardation syndrome (AAAS)
- Alacrima, achalasia, mental retardation syndrome (GMPPA)
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (PHOX2B)
- Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
- Charcot-Marie-Tooth disease, DI, D (MPZ)
- Charcot-Marie-Tooth disease, type 1B (MPZ)
- Charcot-Marie-Tooth disease, type 2B (RAB7A)
- Charcot-Marie-Tooth disease, type 2I (MPZ)
- Charcot-Marie-Tooth disease, type 2J (MPZ)
- Congenital insensitivity to pain [panelapp] (CLTCL1)
- Dejerine-Sottas disease (MPZ)
- Dysautonomia, familial; Riley-Day syndrome; HSAN III (ELP1)
- Hereditary sensory neuropathy type I-VII
- Hypomyelinating neuropathy, congenital, 2 (MPZ)
- Insensitivity to pain, congenital, with anhidrosis (NTRK1)
- Marsili [pain insensitivity disorder] syndrome (ZFHX2)
- NESCAV syndrome (KIF1A)
- Neuroblastoma with Hirschsprung disease (PHOX2B)
- Neuroblastoma, susceptibility to, 2 (PHOX2B)
- 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 III (ELP1)
- Neuropathy, hereditary sensory + autonomic, type IX, with developmental delay (TECPR2)
- Neuropathy, hereditary sensory + autonomic, type V (NGF)
- 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)
- Pseudohypoaldosteronism, type IIC (WNK1)
- Roussy-Levy syndrome (MPZ)
- Spastic paraplegia 30, AD, AR (KIF1A)
- Spastic paraplegia 3A, AD (ATL1)
- Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome ((LLIFR)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G90.1
Bioinformatik und klinische Interpretation
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