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Results: 1 to 20 of 47

Tests names and labsConditionsGenes and analytesMethods

Lysosomal Storage Disease Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
7850
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Mucolipidosis III gamma

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mucopolysaccharidosis NGS panel

Connective Tissue Gene Tests
United States
1714
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Comprehensive panel

Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Deletion / Duplication panel

Connective Tissue Gene Tests
United States
1714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GNPTG. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

Mucolipidosis and Stuttering via the GNPTG Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stuttering Sequencing Panel

PreventionGenetics
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes

Reference Laboratory Genetics
Spain
10882
  • C Sequence analysis of the entire coding region

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes

Reference Laboratory Genetics
Spain
10978
  • C Sequence analysis of the entire coding region

Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes

Reference Laboratory Genetics
Spain
5757
  • C Sequence analysis of the entire coding region

Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes

Reference Laboratory Genetics
Spain
4141
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease

Asper Biogene Asper Biogene LLC
Estonia
7050
  • C Sequence analysis of the entire coding region

MUCOPOLYSACCHARIDOSIS – NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
1513
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

Lysosomal and peroxisomal diseases (NGS panel of 109 genes)

CGC Genetics
Portugal
117108
  • C Sequence analysis of the entire coding region

MUCOLIPIDOSIS TYPE III ALPHA/BETA

Laboratorio de Genetica Clinica SL
Spain
22
  • C Sequence analysis of the entire coding region

MUCOLIPIDOSIS TYPE II

Laboratorio de Genetica Clinica SL
Spain
12
  • C Sequence analysis of the entire coding region

Mucolipidosis Type III Gamma , Sequencing GNPTG Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Eye diseases comprehensive panel

Asper Biogene Asper Biogene LLC
Estonia
351275
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 47

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.

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