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Results: 81 to 96 of 96

Tests names and labsConditionsGenes, analytes, and microbesMethods

GeneAware Ashkenazi Jewish Panel Version 2 (Female)

Baylor Genetics
United States
4739
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

GeneAware Complete Panel Version 2 (Male)

Baylor Genetics
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
15102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Storage Disease NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7475
  • C Sequence analysis of the entire coding region

Single gene testing MCOLN1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

MCOLN1 Single Gene

Fulgent Genetics
United States
11
  • 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

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • 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

Mucolipidosis Type IV (MCOLN1), 2 Variants

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
11
  • T Targeted variant analysis

Ashkenazi Jewish Diseases, 16 Genes

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
1716
  • T Targeted variant analysis

Mucolipidosis IV

Molecular Genetics Laboratory Genetrack Biolabs Inc.
Canada
11
  • T Targeted variant analysis

mucolipidosis type IV

Center for Human Genetics, Inc
United States
11
  • T Targeted variant analysis

Test for Mucolipidosis IV

Genome Diagnostics Laboratory Hospital For Sick Children
Canada
11
  • T Targeted variant analysis

Results: 81 to 96 of 96

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.