Analysenverzeichnis

Liste der Analysen ←



NameNGS Multiples Phäochromozytom-Paraganglioma-Syndrom
SynonymeNF1, RET, VHL, SDHB, SDHC, SDHD, SDHA, SDHAF2, MAX, TEMEM127, KIF1B
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:

Neurofibromin 1 (NF1-Gen, MIM*613113) optional
Rearranged during transfection protooncogene (RET-Gen, MIM*164761)
von Hippel-Lindau Tumorsuppressor (VHL-Gen, MIM*608537)
Succinate dehydrogenase complex flavoprotein subunit A (SDHA-Gen, MIM*600857)
Succinate dehydrogenase complex iron sulfur subunit B (SDHB-Gen, MIM*185470)
Succinate dehydrogenase complex subunit C (SDHC-Gen, MIM*602413)
Succinate dehydrogenase complex subunit D (SDHD-Gen, MIM*602690)
Succinate dehydrogenase complex assembly factor 2 (SDHAF2-Gen, MIM*613019)
MYC associated factor X (MAX-Gen, MIM*154950)
Transmembrane protein 127 (TMEM127-Gen, MIM*613403)
Kinesin family member 1B (KIF1B-Gen, MIM*605995)