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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hydrops fetalis panel for lysosomal disorders

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
237
  • E Enzyme assay

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5718
  • E Enzyme assay

Lysosomal (Six) Panel, WBC

Mayo Clinic Laboratories Mayo Clinic
United States
66
  • E Enzyme assay

Beta-Glucosidase, Leukocytes

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • E Enzyme assay

Lysosomal storage disorder by enzyme study from amniotic fluid and CVS

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
2423
  • E Enzyme assay

Plasma Chitotriosidase

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
31
  • E Enzyme assay

Liver and Spleen panel

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
76
  • E Enzyme assay

Cherry red spot and Neuroregression panel

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
76
  • E Enzyme assay

Gaucher Disease

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • E Enzyme assay

Gaucher disease

Diagnostics Division CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
India
11
  • E Enzyme assay

Horizon 14 Male plus TSE

Natera, Inc.
United States
1214
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Horizon 106 plus TSE

Natera, Inc.
United States
103107
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 27 plus TSE

Natera, Inc.
United States
2829
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274 Plus TSE

Natera, Inc.
United States
265275
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 137 plus TSE

Natera, Inc.
United States
135138
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 14 plus TSE

Natera, Inc.
United States
1516
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Gaucher disease

Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
India
12
  • E Enzyme assay
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Gaucher Disease

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • E Enzyme assay
  • C Sequence analysis of the entire coding region

Glucocerebrosidase deficiency

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
11
  • E Enzyme assay

Results: 1 to 19 of 19

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.