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Results: 101 to 113 of 113

Tests names and labsConditionsGenes, analytes, and microbesMethods

Epilepsy

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

Neurodegeneration with Brain Iron Accumulation (NBIA)

MGZ Medical Genetics Center
Germany
112
  • 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

Epileptic Encephalopathy

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

CP Single Gene

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

Ceruloplasmin (ferroxidase) deficiency (CP)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MODY Neonatal Diabetes NGS Panel

Fulgent Genetics
United States
5630
  • 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

Aceruloplasminemia (CP)

MVZ Dr. Eberhard & Partner Dortmund
Germany
31
  • C Sequence analysis of the entire coding region

Aceruloplasminemia/Hypoceruloplasminemia

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Aceruloplasminemia

BloodGenetics
Spain
11
  • C Sequence analysis of the entire coding region

Results: 101 to 113 of 113

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.