Klinische FragestellungBardet-Biedl-Syndrom, Differentialdiagnose II [Erweiterungs-panel]
Zusammenfassung
Kurzinformation
Zusätzliches umfassendes differentialdiagnostisches panel für Bardet-Biedl Syndrom mit 28 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
BP1271
Anzahl Gene
4
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
0,0 kb (Core-/Core-canditate-Gene)
9,7 kb (Erweitertes Panel: inkl. additional genes)
9,7 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_BP1271
Synonyme
- Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
- Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
- Allelic: Cone-rod dystrophy 6 (GUCY2D)
- Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
- Allelic: Pigmented paravenous chorioretinal atrophy (CRB1)
- Allelic: Renal-hepatic-pancreatic dysplasia 1 (NPHP3)
- Allelic: Retinitis pigmentosa 20 (RPE65)
- Allelic: Retinitis pigmentosa 87 with choroidal involvement (RPE65)
- Allelic: Retinitis pigmentosa-12 (CRB1)
- Alstrom syndrome (ALMS1)
- Bardet-Biedl syndrome 13 (MKS1)
- Bardet-Biedl syndrome 14 (CEP290)
- Bardet-Biedl syndrome 16 (SDCCAG8)
- Bardet-Biedl syndrome 6 (MKKS)
- COACH syndrome 1 (TMEM67)
- COACH syndrome 2 (CC2D2A)
- COACH syndrome 3 (RPGRIP1L)
- Cranioectodermal dysplasia 4 (WDR19)
- Joubert syndrome 17 (CPLANE1)
- Joubert syndrome 2 (TMEM216)
- Joubert syndrome 20 (TMEM231)
- Joubert syndrome 24 (TCTN2)
- Joubert syndrome 27 (B9D1)
- Joubert syndrome 28 (MKS1)
- Joubert syndrome 29 (TMEM107)
- Joubert syndrome 3 (AHI1)
- Joubert syndrome 34 (B9D2)
- Joubert syndrome 4 (NPHP1)
- Joubert syndrome 5 (CEP290)
- Joubert syndrome 6 (TMEM67)
- Joubert syndrome 7 (RPGRIP1L)
- Joubert syndrome 9 (CC2D2A)
- Leber congenital amaurosis 1 (GUCY2D)
- Leber congenital amaurosis 10 (CEP290)
- Leber congenital amaurosis 13 (RDH12)
- Leber congenital amaurosis 2 (RPE65)
- Leber congenital amaurosis 8 (CRB1)
- McKusick-Kaufman syndrome (MKKS)
- Meckel syndrome 1 (MKS1)
- Meckel syndrome 10 (B9D2)
- Meckel syndrome 11 (TMEM231)
- Meckel syndrome 12 (KIF14)
- Meckel syndrome 13 (TMEM107)
- Meckel syndrome 14 (TXNDC15)
- Meckel syndrome 2 (TMEM216)
- Meckel syndrome 3 (TMEM67)
- Meckel syndrome 4 (CEP290)
- Meckel syndrome 5 (RPGRIP1L)
- Meckel syndrome 6 (CC2D2A)
- Meckel syndrome 7 (NPHP3)
- Meckel syndrome 8 (TCTN2)
- Meckel syndrome 9 (B9D1)
- Microcephaly 20, primary, AR (KIF14)
- Nephronophthisis 1, juvenile (NPHP1)
- Nephronophthisis 11 (TMEM67)
- Nephronophthisis 13 (WDR19)
- Nephronophthisis 3 (NPHP3)
- Nephronophthisis 4 (NPHP4)
- Orofaciodigital syndrome VI (CPLANE1)
- Orofaciodigital syndrome XVI (TMEM107)
- RHYNS syndrome (TMEM67)
- Senior-Loken syndrome 1 (NPHP1)
- Senior-Loken syndrome 4 (NPHP4)
- Senior-Loken syndrome 5 (IQCB1)
- Senior-Loken syndrome 6 (CEP290)
- Senior-Loken syndrome 7 (SDCCAG8)
- Senior-Loken syndrome 8 (WDR19)
- Senior-Loken syndrome 9 (TRAF3IP1)
- Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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