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Results: 1 to 20 of 44

Tests names and labsConditionsGenes and analytesMethods

Crouzon syndrome with acanthosis nigricans (CAN) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Crouzon syndrome with acanthosis nigricans

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

FGFR3 gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
61
  • C Sequence analysis of the entire coding region

Crouzon Syndrome with Acanthosis Nigricans

Center for Genetics at Saint Francis Saint Francis Hospital
United States
11
  • E Sequence analysis of select exons

Facial Dysostosis Related Disorders Sequencing Panel

PreventionGenetics
United States
3319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis and Related Disorders Sequencing Panel

PreventionGenetics
United States
195
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR3. Detection of the mutation p.Pro250Arg by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

FGFR3. Detection of the mutation p.Ala391Glu

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Achondroplasia Mutation Panel

Baylor Miraca Genetics Laboratories
United States
121
  • S Mutation scanning of the entire coding region

FGFR3-Related Disorders via the FGFR3 Gene

PreventionGenetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR3 Related Disorders, Del-Dup Targeted Exonic Array

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
61
  • D Deletion/duplication analysis

FGFR3 Related Disorders, Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
61
  • C Sequence analysis of the entire coding region

FGFR3 Related Disorders Tier 1 (includes Thanatophoric Dysplasias, Types 1 & 2, Achondroplasia, Hypochondroplasia, SADDAN, Crouzon, Muenke)

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
61
  • E Sequence analysis of select exons

Craniosynostosis

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
6626
  • C Sequence analysis of the entire coding region

Disproportionate Short Stature: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19876
  • C Sequence analysis of the entire coding region

Crouzon Syndrome with Acanthosis Nigricans , Sequencing FGFR3 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Crouzon syndrome with acanthosis nigricans

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

PreSeek Non-invasive Prenatal Gene Sequencing Screen

Baylor Miraca Genetics Laboratories
United States
4830
  • C Sequence analysis of the entire coding region

FGFR3 - Gene sequencing

Genera
Brazil
81
  • C Sequence analysis of the entire coding region

Fibroblast Growth Factor Receptor 2 (FGFR2)-related Disorders Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
121
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 44

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.

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