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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Comprehensive panel

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

Mucopolysaccharidosis NGS panel

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

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, Part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disorders Panel

PreventionGenetics, Part of Exact Sciences
United States
242146
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis NGS panel

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

Mucopolysaccharidosis Comprehensive panel

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

Mucopolysaccharidosis Type III Panel

PreventionGenetics, Part of Exact Sciences
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mucopolysaccharidosis Type IIIA / Sanfilippo Syndrome A via the SGSH Gene

PreventionGenetics, Part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SGSH Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • 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 274

Natera, Inc.
United States
265274
  • 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 137

Natera, Inc.
United States
135137
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 274

Natera, Inc.
United States
265274
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware Complete Panel Version 2 (Female)

Baylor Genetics
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 17 of 17

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.