Centre for Inherited Metabolic Diseases

Personnel

Director: Nicole Lesko, PhD, Lab Director
Phone: +46 851771457
Fax: Sverige
Email: cmms.dna.karolinska@regionstockholm.se
Michela Barbaro, PhD, Laboratory Contact
Phone: +46 851771450
Fax: +46 851771474
Email: michela.barbaro@karolinska.se
Helene Bruhn,
Phone: +46 851771451
Fax: +46 851771474
Email: helene.bruhn@karolinska.se
Malin Hult, PhD,
Phone: +46 851771454
Fax: +46 851771474
Email: malin.hult@karolinska.se

Conditions and tests

42 conditions/phenotypes with 40 tests
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Acute intermittent porphyria1 test
Adenosine kinase deficiency1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Cobalamin C disease1 test
Creatine transporter deficiency1 test
Cutaneous porphyria1 test
Deficiency of galactokinase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Developmental and epileptic encephalopathy, 391 test
Fabry disease1 test
Familial porphyria cutanea tarda1 test
Glutaric aciduria, type 11 test
Hereditary coproporphyria1 test
Hereditary fructosuria1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Homocystinuria, cblD type, variant 11 test
Infantile onset spinocerebellar ataxia1 test
Inherited glutathione synthetase deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Leigh Syndrome (nuclear DNA mutation)1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
MERRF syndrome1 test
Methylmalonic acidemia1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Mitochondrial disease1 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial trifunctional protein deficiency1 test
Mucopolysaccharidosis type 11 test
Myoglobinuria, acute recurrent, autosomal recessive1 test
Peroxisome biogenesis disorder1 test
Progressive sclerosing poliodystrophy1 test
Protoporphyria, erythropoietic, 11 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Renal carnitine transport defect1 test
Variegate porphyria1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test

List of services

This lab has no services.

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