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Results: 81 to 93 of 93

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

Lysosomal Disorders Panel

CeGaT GmbH
Germany
1529
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • C Sequence analysis of the entire coding region

Lysosomal Disorders Panel

CeGaT GmbH
Germany
1529
  • C Sequence analysis of the entire coding region

GLB1

Institute of Human Genetics Medical University Innsbruck
Austria
41
  • S Mutation scanning of the entire coding region

Mucopolysaccharidosis type IVB

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

GLB1 Single Gene

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis NGS Panel

Fulgent Genetics
United States
2114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis type IVB (Morquio)

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis type IVB (Morquio)

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

beta-galactosidase deficiency

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

Results: 81 to 93 of 93

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