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Results: 1 to 20 of 47

Tests names and labsConditionsGenes, analytes, and microbesMethods

FGFR1 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
62
  • C Sequence analysis of the entire coding region

FGFR1 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene US, LLC - The Rare Disease Company
United States
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Abnormal Mineralization Panel

Centogene US, LLC - The Rare Disease Company
United States
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene US, LLC - The Rare Disease Company
United States
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoHear Panel

Centogene US, LLC - The Rare Disease Company
United States
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene US, LLC - The Rare Disease Company
United States
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene US, LLC - The Rare Disease Company
United States
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Abnormal Mineralization Panel

Centogene AG - the Rare Disease Company
Germany
9595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoHear Panel

Centogene AG - the Rare Disease Company
Germany
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hypogonadotropic Hypogonadism Panel

Invitae
United States
6746
  • D Deletion/duplication analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics
United States
342156
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Limb and Digital Malformations Panel

Invitae
United States
367178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Brain Malformations Panel

Invitae
United States
247161
  • D Deletion/duplication analysis

Results: 1 to 20 of 47

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.