English
Klinische FragestellungMitochondriale Lebererkrankungen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Mitochondriale Lebererkrankungen mit 8 Leitlinien-kuratierten sowie insgesamt 13 kuratierten Genen
ID
MP3353
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
11,6 kb (Core-/Core-canditate-Gene)
18,3 kb (Erweitertes Panel: inkl. additional genes)
18,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
- Gewebeprobe
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| DGUOK | 834 | NM_080916.3 | AR | |
| MGME1 | 1035 | NM_052865.4 | AR | |
| MPV17 | 531 | NM_002437.5 | AR | |
| POLG | 3720 | NM_002693.3 | AD, AR | |
| RRM2B | 1272 | NM_015713.5 | AR | |
| TFAM | 645 | NM_001270782.2 | AR | |
| TWNK | 2055 | NM_021830.5 | AD, AR | |
| TYMP | 1449 | NM_001953.5 | AR | |
| ACAD9 | 1866 | NM_014049.5 | AR | |
| BCS1L | 1260 | NM_004328.5 | AR | |
| POLG2 | 1458 | NM_007215.4 | AD, AR | |
| SCO1 | 906 | NM_004589.4 | AR | |
| TRMU | 1266 | NM_018006.5 | AR |
Infos zur Erkrankung
Synonyme
- Allelic: Bjornstad syndrome (BCS1L)
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
- Allelic: Deafness, mitochondrial, modifier of (TRMU)
- Allelic: Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
- Allelic: Perrault syndrome 5 (TWNK)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
- Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
- Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
- GRACILE syndrome (BCS1L)
- Liver failure, transient infantile (TRMU)
- Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
- Mitochondrial DNA depletion syndrome 11 (MGME1)
- Mitochondrial DNA depletion syndrome 15 [hepatocerebral type] (TFAM)
- Mitochondrial DNA depletion syndrome 16 [hepatic type] (POLG2)
- Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
- Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
- Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
- Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
- Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
- Mitochondrial DNA depletion syndrome 8A [encephalomyopathic type with renal tubulopathy] (RRM2B)
- Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
- Mitochondrial complex I deficiency, nuclear type 20 (ACAD9)
- Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
- Mitochondrial complex IV deficiency, nuclear type 4 (SCO1)
- Portal hypertension, noncirrhotic (DGUOK)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G31.81
Bioinformatik und klinische Interpretation
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