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Results: 161 to 177 of 177

Tests names and labsConditionsGenes, analytes, and microbesMethods

CLN5 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Epilepsy

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

Brain Malformations / Neuronal Migration Disorders

MGZ Medical Genetics Center
Germany
2266
  • 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

Progressive Myoclonic Epilepsy

MGZ Medical Genetics Center
Germany
1331
  • C Sequence analysis of the entire coding region

Epileptic Encephalopathy

MGZ Medical Genetics Center
Germany
1789
  • C Sequence analysis of the entire coding region

CLN5 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

Neuronal Ceroid Lipofuscinosis NGS Panel

Fulgent Genetics
United States
3114
  • 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

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic disease with epilepsy panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2924
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Eye Disorders NGS Panel

Fulgent Genetics
United States
1018459
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NCL Panel

Genome Diagnostics Laboratory The Hospital for Sick Children
Canada
17
  • C Sequence analysis of the entire coding region

CLN5-Related Neuronal Ceroid-Lipofuscinosis

Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
Czech Republic
11
  • C Sequence analysis of the entire coding region

Test for CLN5-Related Neuronal Ceroid-Lipofuscinosis

Genome Diagnostics Laboratory The Hospital for Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Results: 161 to 177 of 177

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.