English
ErkrankungKampomele Dysplasie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Kampomele Dysplasie mit 7 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP0320
Anzahl Gene
7
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
1,6 kb (Core-/Basis-Gene)
18,8 kb (Erweitertes Panel)
18,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
- Fruchtwasser (nach AC)
Diagnostische Hinweise
NGS +
Genpanel
Infos zur Erkrankung
Synonyme
- Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
- Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
- Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 2 (COL1A2)
- Allelic: Ehlers-Danlos syndrome, cardiac valvular type (COL1A2)
- Allelic: Hypophosphatasia, adult (ALPL)
- Allelic: Odontohypophosphatasia (ALPL)
- Allelic: Osteoporosis, postmenopausal (COL1A2)
- Acampomelic campomelic dysplasia (SOX9)
- Achondroplasia (FGFR3)
- Anauxetic dysplasia 1 (RMRP)
- CATSHL syndrome (FGFR3)
- Caffey disease (COL1A1)
- Campomelic dysplasia (SOX9)
- Campomelic dysplasia with autosomal sex reversal (SOX9)
- Cartilage-hair hypoplasia (RMRP)
- Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
- Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 2 (COL1A2)
- Crouzon syndrome with acanthosis nigricans (FGFR3)
- Hypochondroplasia (FGFR3)
- Hypophosphatasia, childhood (ALPL)
- Hypophosphatasia, infantile (ALPL)
- LADD syndrome (FGFR3)
- Metaphyseal dysplasia without hypotrichosis (RMRP)
- Muenke syndrome (FGFR3)
- Osteogenesis imperfecta, type I-IV (COL1A1)
- Osteogenesis imperfecta, type II-IV (COL1A2)
- SADDAN (FGFR3)
- Stickler syndrome, type I (COL2A1)
- Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
- Thanatophoric dysplasia, type I-II (FGFR3)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q87.1
Bioinformatik und klinische Interpretation
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