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Results: 21 to 40 of 119

Tests names and labsConditionsGenes, analytes, and microbesMethods

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
145112
  • 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
202212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Alexander disease - GFAP gene sequencing

Institute of Human Genetics Foundation for Research in Genetics and Endocrinology
India
11
  • S Mutation scanning of the entire coding region

Ataxia Exome

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

Hydrocephalus Panel

Genetic Services Laboratory University of Chicago
United States
316
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Alexander Disease via the GFAP 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

Macrocephaly Panel

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

Epilepsy Panel

Baylor Genetics
United States
1397
  • C Sequence analysis of the entire coding region

Cerebral Palsy Spectrum Disorders Panel

Baylor Genetics
United States
1419
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Hereditary ataxias panel_v.2.0

CGC Genetics Unilabs
Portugal
1427
  • C Sequence analysis of the entire coding region

Structural diseases of basal ganglia (WES based NGS panel of 72 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
173
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Neurodegenerative panel _v.2.0

CGC Genetics Unilabs
Portugal
15207
  • C Sequence analysis of the entire coding region

Epilepsy panel_v.2.0

CGC Genetics Unilabs
Portugal
1759
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

CGC Genetics Unilabs
Portugal
11307
  • C Sequence analysis of the entire coding region

Parkinson's and movement disorders panel_v.2.0

CGC Genetics Unilabs
Portugal
1256
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
234240
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Leukodystrophy and leukoencephalopathy (WES based NGS panel of 90 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
190
  • C Sequence analysis of the entire coding region

Macrocephaly (WES based NGS panel of 16 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
116
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 119

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.