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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

Lysosomal diseases panel

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
5818
  • 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

Cherry red spot and Neuroregression panel

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

Neurodegenerative panel

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
66
  • E Enzyme assay

Sandhoff disease

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

Hexosaminidase A & B Enzyme Analysis

Baylor Genetics
United States
21
  • E Enzyme assay

Tay Sachs Disease, Biochemical, Serum

Biochemical Genetics Laboratory LabCorp
United States
31
  • E Enzyme assay

Sandhoff disease

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

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

Sandhoff 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

Hexosaminidase B deficiency

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

Results: 1 to 12 of 12

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