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Results: 1 to 20 of 37

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 NextGen Sequencing (NGS) 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 NextGen Sequencing (NGS) 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

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

FGFR3 Related Disorders, Sequencing

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)

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
6421
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3056447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosysostosis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2219
  • C Sequence analysis of the entire coding region

Crouzon syndrome - acanthosis nigricans

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

Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes)

CGC Genetics
Portugal
1010
  • D Deletion/duplication analysis

Single gene testing FGFR3

CeGaT GmbH
Germany
131
  • C Sequence analysis of the entire coding region

FGFR3

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
121
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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.