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Results: 21 to 40 of 595

Tests names and labsConditionsGenes, analytes, and microbesMethods

Dystonia Panel

GeneDx
United States
183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dystonia and Parkinsonism Panel

GeneDx
United States
2073
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia Xpanded Panel

GeneDx
United States
1999
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain-Iron Accumulation NGS Panel

Fulgent Genetics
United States
3613
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
114
  • D Deletion/duplication analysis

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
United States
114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurodegeneration with Brain Iron Accumulation

Asper Biogene Asper Biogene LLC
Estonia
1010
  • C Sequence analysis of the entire coding region

Neurogenetic Disorders - panels

MGZ Medical Genetics Center
Germany
14597
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel - Neurodegeneration with brain iron accumulation

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
1010
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing

NBIA Testing Center Oregon Health & Science University
United States
519
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Parkinson Disease Panel

Centogene AG - the Rare Disease Company
Germany
7876
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

WES mitochondrial disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1369
  • E Sequence analysis of select exons

Parkinson Disease Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 595

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.