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Results: 61 to 80 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

Mosaic Carrier Test    

GeneDx
United States
11040
  • T Targeted variant analysis

Two Known Familial Variants in a Nuclear Gene

GeneDx
United States
11043
  • T Targeted variant analysis

One Known Familial Variant in a Nuclear Gene

GeneDx
United States
11045
  • T Targeted variant analysis

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

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thiamine-responsive dysfunction syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
54
  • C Sequence analysis of the entire coding region

Leigh Disease NGS Panel

Fulgent Genetics
United States
16375
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
143135
  • D Deletion/duplication analysis
  • 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

Nuclear encoded Mitochondriopathies Panel

CeGaT GmbH
Germany
37284
  • C Sequence analysis of the entire coding region

Epilepsy

MGZ Medical Genetics Center
Germany
17212
  • C Sequence analysis of the entire coding region

Mitochondrial Encephalopathy

MGZ Medical Genetics Center
Germany
6131
  • C Sequence analysis of the entire coding region

Mitochondrial Diseases

MGZ Medical Genetics Center
Germany
6168
  • C Sequence analysis of the entire coding region

Epilepsy and Mitochondrial Encephalopathy

MGZ Medical Genetics Center
Germany
17186
  • C Sequence analysis of the entire coding region

TPK1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 61 to 80 of 80

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.