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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 Beckwith-Wiedemann Syndrome Uniparental disomy study (UPD)
Karolinska University Hospital, Department of Clinical Genetics Birt-Hogg-Dube Syndrome FLCN, Linkage analysis
Karolinska University Hospital, Department of Clinical Genetics Birt-Hogg-Dube Syndrome FLCN, Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics Campomelic Dysplasia SOX9, Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics CDC73-Related Disorders CDC73, Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics CFTR-Related Disorders CFTR, Linkage analysis
Karolinska University Hospital, Department of Clinical Genetics CFTR-Related Disorders CFTR, Targeted mutation analysis
Karolinska University Hospital, Department of Clinical Genetics Charcot-Marie-Tooth Neuropathy Type 1A PMP22, Targeted mutation analysis
Karolinska University Hospital, Department of Clinical Genetics CHARGE Syndrome CHD7, Deletion/duplication analysis
Karolinska University Hospital, Department of Clinical Genetics CHARGE Syndrome CHD7, Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia STAR, Sequence analysis of the entire coding region
Karolinska University Hospital, Department of Clinical Genetics Congenital Central Hypoventilation Syndrome PHOX2B, Sequence analysis of the entire coding region
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