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Results: 161 to 180 of 180

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ataxia and differential diagnoses Panel

CeGaT GmbH
Germany
173204
  • C Sequence analysis of the entire coding region

Neuronal Ceroidlipofuscinosis (NCL) Panel

CeGaT GmbH
Germany
2413
  • C Sequence analysis of the entire coding region

Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel

CeGaT GmbH
Germany
822
  • C Sequence analysis of the entire coding region

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 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 Hospital For Sick Children
Canada
11
  • C Sequence analysis of the entire coding region

Results: 161 to 180 of 180

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.