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Results: 181 to 200 of 200

Tests names and labsConditionsGenes, analytes, and microbesMethods

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel

CeGaT GmbH
Germany
69175
  • C Sequence analysis of the entire coding region

Ataxia and differential diagnoses Panel

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

Lysosomal Disorders Panel

CeGaT GmbH
Germany
1529
  • C Sequence analysis of the entire coding region

Hereditary Degenerative Syndromes Panel

CeGaT GmbH
Germany
2849
  • C Sequence analysis of the entire coding region

Lysosomal Disorders Panel

CeGaT GmbH
Germany
1529
  • C Sequence analysis of the entire coding region

NPC1

Institute of Human Genetics Medical University Innsbruck
Austria
11
  • S Mutation scanning of the entire coding region

Epilepsy

MGZ Medical Genetics Center
Germany
17212
  • 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

NPC1 Single Gene

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

Cholestasis NGS Panel

Fulgent Genetics
United States
12166
  • 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

FTD - ALS panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2815
  • 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

Niemann Pick disease C1/D

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Niemann Pick disease C1/D

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Niemann-Pick Disease type C

Laboratory of Human Genetics GENOMED Health Care Center
Poland
11
  • C Sequence analysis of the entire coding region

Niemann-Pick Disease Type C1

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

Results: 181 to 200 of 200

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.