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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

GLUL - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hyperammonemia Panel

PreventionGenetics, part of Exact Sciences
United States
6663
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hyperammonemia Panel

Invitae
United States
7572
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Metabolic Non-Immune Fetal Hydrops Panel

Invitae
United States
5051
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GABA Metabolism Deficiency NGS Panel

Fulgent Genetics
United States
2430
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurotransmitter Metabolism Deficiency NGS Panel

Fulgent Genetics
United States
85101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypomyelinating Leukodystrophy NGS Panel

Fulgent Genetics
United States
22562
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperammonemia and Urea Cycle Disorder NGS Panel

Fulgent Genetics
United States
7056
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GLUL 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
51294672
  • 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: 1 to 17 of 17

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.