Analysenverzeichnis

Liste der Analysen ←



NameNGS Hypophosphatämie
SynonymePHEX, FGF23, FGF23, SLC34A3, SLC94AR1, FAM20C, KL, CLCN5, FGFR1, DMP1, ENPP1
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:

Phosphate regulating endopeptidase homolog X-linked (PHEX-Gen, MIM*300550)
Fibroblast growth factor 23 (FGF23-Gen, MIM*605380)
Solute carrier family 34 member 1 (sodium phosphate) (SLC34A1-Gen, MIM*182309)
Solute carrier family 34 member 3 (sodium phosphate) (SLC34A3-Gen, MIM*609826)
Solute carrier family 9 (sodium/hydrogen exchanger) (SLC94AR1-Gen, MIM*604990)Family with sequence similarity 20, member C (FAM20C-Gen)
Klotho (KL-Gen, MIM*604824)
Nephrolithiasis 2, X-linked|nephrolithiasis 1 (X-linked) (CLCN5-Gen, MIM*300008)
Fibroblast growth factor receptor 1 (FGFR1-Gen, MIM*136350)
Dentin matrix acidic phosphoprotein (DMP1-Gen, MIM*600980)
Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1-Gen, MIM*173335)