Practice and Research

Molecular Practices

At Gazi University School of Medicine’s Pediatric Metabolism Laboratory, all genetic serial analysis are made for mitochondrial DNA for mitochondrial illnesses, Gaucher’s Disease, Fabry Disease, Glycogen Storage Disease, Type 1a, Hereditary Hypercholesterolemy, Cystic Fibrosis and Progressive Familial Intrahepatic Cholestasis. For these studies 5cc of blood in tubes with EDTA or a DNA sample can be sent to our laboratory.

( ) MT140  DNA, Isolation, Blood
( ) MT141  DNA, Isolation, Tissue
( ) MT142  mtDNA(mitochondrial DNA)(Full Genome) Serial Analysis
( ) MT144  LDLR Gene (Herediatry  Hypercholesterolemy) Serial Analysis
( ) MT204  GLA Gene (Fabry) Serial Analysis
( ) MT205  GBA Gene (Gaucher) Serial Analysis
( ) MT206  G6PC Gene (Glycogen Storage Disease, Type 1a) Serial Analysis
( ) MT207  CFTR Gene (Cystic Fibrosis) Serial Analysis
( ) MT208  ATP8B1 Gene (PFIC1) Serial Analysis
( ) MT209  ABCB11 Gene (PFIC2) Serial Analysis
( ) MT210  ABCB4 Gene (PFIC3) Serial Analysis

Not: 5cc of blood in tubes with EDTA or a DNA sample should be sent.