Analysenverzeichnis

Liste der Analysen ←



NameNGS Osteogenensis Imperfecta (OI) / schwere Osteoporose
SynonymeP3H1, WNT1, CASR, CYP27B1, COL1A1, COL1A2, CRTAP, VDR, PHEX, LRP5, ALPL, WISP3
GruppeMolekulargenetik
MaterialEDTA-Blut
Messgenauigkeit Sensitivitätsnachweis pathogener Varianten >98%
Präanalytik Aufklärung nach dem Gendiagnostikgesetz
Transport Postversand möglich.
Abrechnung Preis auf Anfrage
Beschreibung NGS-Multi-Genpanel-Untersuchung:

Prolyl 3-hydroxylase 1 (P3H1-Gen, MIM*610339)
WNT family member 1 (WNT1-Gen, MIM*164820)
Calcium-Sensing-Rezeptor (CASR-Gen, MIM*601199)
Cytochrome P450 family 27 B1 (CYP27B1-Gen, MIM*609506)
Collagen type I alpha 1 chain (COL1A1-Gen, MIM*120150)
Collagen type I alpha 2 chain (COL1A2-Gen, MIM*120160)
Cartilage associated protein (CRTAP-Gen, MIM*605497)
Vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR-Gen, MIM*601769)
Phosphate regulating endopeptidase homolog X-linked (PHEX-Gen, MIM*300550)
LDL receptor related protein 5 (LRP5-Gen, MIM*603506)
Alkaline phosphatase, liver/bone/kidney (ALPL-Gen, MIM*171760)
WNT1 inducible signaling pathway protein 3 (WISP3-Gen, MIM*603400)