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Products found: 117Search results

Karolinska University Hospital, Department of Clinical Genetics

Disorder Genes Test Method Lab Info Product code  
Karolinska University Hospital, Department of Clinical Genetics FMR1-Related Disorders FMR1, Targeted mutation analysis
Karolinska University Hospital, Department of Clinical Genetics Griscelli Syndrome, Type 2 RAB27A, Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics Hemoglobin SC HBB, Targeted mutation analysis
Karolinska University Hospital, Department of Clinical Genetics Hereditary Diffuse Gastric Cancer CDH1, Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics Hereditary Neuropathy with Liability to Pressure Palsies PMP22, Deletion/duplication analysis
Karolinska University Hospital, Department of Clinical Genetics HFE-Associated Hereditary Hemochromatosis HFE, Targeted mutation analysis
Karolinska University Hospital, Department of Clinical Genetics Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency CBS, Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics Huntington Disease HTT, Linkage analysis
Karolinska University Hospital, Department of Clinical Genetics Huntington Disease HTT, Targeted mutation analysis
Karolinska University Hospital, Department of Clinical Genetics Hypochondroplasia FGFR3, Sequence analysis of select exons
Karolinska University Hospital, Department of Clinical Genetics Isolated Aniridia PAX6, Deletion/duplication analysis
Karolinska University Hospital, Department of Clinical Genetics Isolated Aniridia PAX6, FISH-interphase
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