Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders

Disorder	Genes	Test Method	Lab Info	Product code
3-Methylglutaconic Aciduria Type 2 - Sequence analysis of the entire coding region	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	3-Methylglutaconic Aciduria Type 2	TAZ,			CODE: 8952	Add to Cart Add to Compare List
ALG6-CDG (CDG-Ic) - Sequence analysis of the entire coding region	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	ALG6-CDG (CDG-Ic)	ALG6,			CODE: 8953	Add to Cart Add to Compare List
ALG8-CDG (CDG-Ih) - Sequence analysis of the entire coding region	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	ALG8-CDG (CDG-Ih)	ALG8,			CODE: 8954	Add to Cart Add to Compare List
CHRNE-Related Congenital Myasthenic Syndrome - Sequence analysis of the entire coding region	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	CHRNE-Related Congenital Myasthenic Syndrome	CHRNE,			CODE: 8955	Add to Cart Add to Compare List
Congenital Disorders of Glycosylation - Protein analysis	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	Congenital Disorders of Glycosylation	ALG11, ALG13, COG4, COG5, COG6, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, MAGT1, MOGS, MPDU1, RFT1, SLC35A1, SLC35C1, SRD5A3, TMEM165, TUSC3,	Protein analysis		CODE: 8956	Add to Cart Add to Compare List
Cystinosis - Sequence analysis of the entire coding region	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	Cystinosis	CTNS,			CODE: 8957	Add to Cart Add to Compare List
DPM1-CDG (CDG-Ie) - Sequence analysis of the entire coding region	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	DPM1-CDG (CDG-Ie)	DPM1,			CODE: 8958	Add to Cart Add to Compare List
Epileptic Encephalopathy, Early Infantile, 2 - Deletion/duplication analysis	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	Epileptic Encephalopathy, Early Infantile, 2	CDKL5,			CODE: 8960	Add to Cart Add to Compare List
Epileptic Encephalopathy, Early Infantile, 2 - Sequence analysis of the entire coding region	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	Epileptic Encephalopathy, Early Infantile, 2	CDKL5,			CODE: 8959	Add to Cart Add to Compare List
Fanconi-Bickel Syndrome - Sequence analysis of the entire coding region	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	Fanconi-Bickel Syndrome	SLC2A2,			CODE: 8961	Add to Cart Add to Compare List
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency - Enzyme assay	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency	SCO2,	Enzyme assay		CODE: 8963	Add to Cart Add to Compare List
Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency - Protein analysis	Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders	Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency	SCO2,	Protein analysis		CODE: 8964	Add to Cart Add to Compare List