Analysenverzeichnis

Liste der Analysen ←



NameNGS Maturity diabetes of the young-MODY
SynonymeMODY, HNF4A, GCK, HNF1A, PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1
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:

Hepatocyte nuclear factor 4 alpha (HNF4A-Gen, MIM*600281), MODY-Typ1
Glucokinase (GCK-Gen, MIM*138079), MODY-Typ2
HNF1 homeobox A (HNF1A-Gen, MIM*142410), MODY-Typ3
Pancreatic and duodenal homeobox 1 (PDX1-Gen, MIM*600733), MODY-Typ4
HNF1 homeobox B (HNF1B-Gen, MIM*189907), MODY-Typ5
Neuronal differentiation 1 (NEUROD1-Gen, MIM*601724), MODY-Typ6
Kruppel like factor 11 (KLF11-Gen, MIM*603301), MODY-Typ7
Carboxyl-ester lipase (CEL-Gen, MIM*114840), MODY-Typ8
Paired box 4 (PAX4-Gen, MIM*167413), MODY-Typ9
Insulin (INS-Gen, MIM*176730), MODY-Typ10
BLK proto-oncogene, Src family tyrosine kinase (BLK-Gen, MIM*191305), MODY-Typ11
ATP binding cassette subfamily C member 8 (ABCC8-Gen, MIM*600509), MODY-Typ12
Potassium voltage-gated channel J11 (KCNJ11-Gen, MIM*600937), MODY-Typ13
Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 (APPL1-Gen, MIM*604299) MODY-Typ14