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Results: 21 to 40 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

WES metabolic disorders

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

WES mitochondrial disorders

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

Invitae Treatable Neurometabolic Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
353208
  • D Deletion/duplication analysis

Cerebral Palsy Spectrum Disorders Panel

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

Combined Mito Genome Plus Mito Focused Nuclear Gene Panel

GeneDx
United States
1189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Encoded Mitochondrial Disorders Panel 

CGC Genetics Unilabs
Portugal
1306
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Neuromuscular Diseases Panel (Expanded)

Mendelics
Brazil
1288
  • C Sequence analysis of the entire coding region

Neurodevelopmental and Movement Disorders Panel

Mendelics
Brazil
2121
  • C Sequence analysis of the entire coding region

Coenzyme Q10 deficiency panel. NGS panel of 15 genes.

Genologica Medica
Spain
1315
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • 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

Coenzyme Q10 deficiency, primary: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
88
  • C Sequence analysis of the entire coding region

Coenzyme Q10 Deficiency NGS Panel

Fulgent Genetics
United States
3315
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oxidative Phosphorylation Disorders NGS Panel

Fulgent Genetics
United States
416235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Coenzyme Q10 Deficiency: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
18
  • C Sequence analysis of the entire coding region

Coenzyme q10 Deficiency Panel

Blueprint Genetics
Finland
215
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 45

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.