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Results: 1 to 20 of 179

Tests names and labsConditionsGenes, analytes, and microbesMethods

New Born testing (CentoICU)

Centogene AG - the Rare Disease Company
Germany
766514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
767514
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7851205
  • C Sequence analysis of the entire coding region

CHARGE syndrome

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

Facial Dysostosis Panel

Genetic Services Laboratory University of Chicago
United States
1418
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHD7 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
42
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6163
  • C Sequence analysis of the entire coding region

qChip 1M

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 60k post-natal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

qChip 400

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

EPISign Whole Genome Methylation Assay

Molecular Genetics Laboratory London Health Sciences Centre
Canada
191
  • M Methylation analysis

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

qChip 60k prenatal

Quantitative Genomic Medicine Laboratories, SL
Spain
184162
  • D Deletion/duplication analysis

CHD7 Gene Sequencing

Michigan Medical Genetics Laboratories University of Michigan
United States
11
  • C Sequence analysis of the entire coding region

CHARGE syndrome testing (CHD7)

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Hypoparathyroidism Panel

Invitae
United States
4118
  • D Deletion/duplication analysis

Invitae Hypogonadotropic Hypogonadism Panel

Invitae
United States
6746
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Results: 1 to 20 of 179

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.