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Results: 21 to 40 of 85

Tests names and labsConditionsGenes, analytes, and microbesMethods

Leukodystrophy and Leukoencephalopathy, Adult Onset Panel

PreventionGenetics, part of Exact Sciences
United States
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci)

Variantyx, Inc.
United States
1378
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

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

Ataxia Exome

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

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • 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

Hereditary ataxias panel_v.2.0

CGC Genetics Unilabs
Portugal
1427
  • 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

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

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

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Bone diseases panel_v.2.0

CGC Genetics Unilabs
Portugal
1662
  • C Sequence analysis of the entire coding region

Leukodystrophy hypomyelinating (NGS panel for 3 genes)

CGC Genetics Unilabs
Portugal
13
  • C Sequence analysis of the entire coding region

Leukodystrophy hypomyelinating type 7 (sequence analysis of POLR3A gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Leukodystrophies Panel

Mendelics
Brazil
1139
  • C Sequence analysis of the entire coding region

SPASTIC PARAPARESIS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1160
  • E Sequence analysis of select exons

Results: 21 to 40 of 85

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.