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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

Megalencephalic leukoencephalopathy mutation study

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • T Targeted variant analysis

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Megalencephalic Leukoencephalopathy With Subcortical Cysts

Myriad Genetics, Inc.
United States
21
  • C Sequence analysis of the entire coding region

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
15088
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Leukodystrophy and Leukoencephalopathy Panel

PreventionGenetics, part of Exact Sciences
United States
201211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia Exome

Genetic Services Laboratory University of Chicago
United States
289481
  • C Sequence analysis of the entire coding region

Dystonia Exome

Genetic Services Laboratory University of Chicago
United States
93170
  • C Sequence analysis of the entire coding region

Macrocephaly Panel

Genetic Services Laboratory University of Chicago
United States
2668
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Horizon 137 Male

Natera, Inc.
United States
130133
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Horizon 274 Male

Natera, Inc.
United States
244254
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Super Panel 113

NxGen MDx
United States
113115
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 106 plus TSE

Natera, Inc.
United States
103107
  • E Enzyme assay
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Horizon 106

Natera, Inc.
United States
103106
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • 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

Foresight

Myriad Genetics, Inc.
United States
112110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MLC1 Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.