English
Klinische FragestellungMalformationen der Gallenwege, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Malformationen der Gallenwege mit 13 bzw. zusammen genommen 18 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP5656
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
55,0 kb (Core-/Core-canditate-Gene)
64,3 kb (Erweitertes Panel: inkl. additional genes)
64,3 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 |
|---|---|---|---|---|
| ALG8 | 1404 | NM_024079.5 | AD | |
| CC2D2A | 4863 | NM_001080522.2 | AR | |
| DGUOK | 834 | NM_080916.3 | AR | |
| DNAJB11 | 1250 | NM_016306.6 | AD | |
| GANAB | 2900 | NM_198335.4 | AD | |
| LRP5 | 4848 | NM_002335.4 | AD | |
| PKD1 | 12912 | NM_001009944.3 | AD | |
| PKD2 | 2907 | NM_000297.4 | AD | |
| PKHD1 | 12225 | NM_138694.4 | AR | |
| PRKCSH | 1587 | NM_002743.3 | AD | |
| RPGRIP1L | 3948 | NM_015272.5 | AR | |
| SEC63 | 2283 | NM_007214.5 | AD | |
| TMEM67 | 2988 | NM_153704.6 | AR | |
| B9D1 | 615 | NM_015681.5 | AR | |
| RTEL1 | 3732 | NM_032957.5 | AD, AR | |
| SEC61B | 295 | NM_006808.3 | AD | |
| STN1 | 1221 | NM_024928.5 | AR | |
| TERT | 3399 | NM_198253.3 | AD, AR |
Infos zur Erkrankung
Synonyme
- Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
- Allelic: Bone mineral density variability 1 (LRP5)
- Allelic: Congenital disorder of glycosylation, type Ih (ALG8)
- Allelic: Exudative vitreoretinopathy 4 (LRP5)
- Allelic: Hyperostosis, endosteal (LRP5)
- Allelic: Leukemia, acute myeloid (TERT)
- Allelic: Melanoma, cutaneous malignant, 9 (TERT)
- Allelic: Nephronophthisis 11 (TMEM67)
- Allelic: Osteopetrosis, AD 1 (LRP5)
- Allelic: Osteoporosis (LRP5)
- Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
- Allelic: Osteosclerosis (LRP5)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
- Allelic: RHYNS syndrome (TMEM67)
- Allelic: van Buchem disease, type 2 (LRP5)
- Association with polycystic liver disease 1 with or without renal cysts (SEC61B)
- COACH syndrome 1 (TMEM67)
- COACH syndrome 2 (CC2D2A)
- COACH syndrome 3 (RPGRIP1L)
- Cerebroretinal microangiopathy with calcifications and cysts 2 (STN1)
- Dyskeratosis congenita, AD 2 (TERT)
- Dyskeratosis congenita, AD 4 (RTEL1)
- Dyskeratosis congenita, AR 4 (TERT)
- Dyskeratosis congenita, AR 5 (RTEL1)
- Joubert syndrome 27 (B9D1)
- Joubert syndrome 6 (TMEM67)
- Joubert syndrome 7 (RPGRIP1L)
- Joubert syndrome 9 (CC2D2A)
- Meckel syndrome 3 (TMEM67)
- Meckel syndrome 5 (RPGRIP1L)
- Meckel syndrome 6 (CC2D2A)
- Meckel syndrome 9 (B9D1)
- Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
- Polycystic kidney disease 1 (PKD1)
- Polycystic kidney disease 2 (PKD2)
- Polycystic kidney disease 3 (GANAB)
- Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
- Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
- Polycystic liver disease 1 (PRKCSH)
- Polycystic liver disease 2 (SEC63)
- Polycystic liver disease 3 with/-out kidney cysts (ALG8)
- Polycystic liver disease 4 with/-out kidney cysts (LRP5)
- Portal hypertension, noncirrhotic (DGUOK)
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q44.5
Bioinformatik und klinische Interpretation
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