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Results: 1 to 20 of 89 (representing 57 labs)

Tests names and labsConditionsGenes and analytesMethods

Achondroplasia

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

Achondroplasia

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
11
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Achondroplasia

Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile
Chile
11
  • T Targeted variant analysis

Achondroplasia

Center for Genetics at Saint Francis Saint Francis Hospital
United States
21
  • T Targeted variant analysis

Achondroplasia

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's 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

COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
118
  • C Sequence analysis of the entire coding region

FGFR3. Detection of the mutations p.Gly375Cys (c.1123G>T), p.Gly380Arg (c.1138G>A and c.1138G>C) by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

FGFR3. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Achondroplasia Mutation Panel

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

Skeletal Dysplasia Panel

Insight Medical Genetics
United States
278
  • X Mutation scanning of select exons

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

Achondroplasia via the FGFR3 Gene, Exon 10

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • 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

Achondroplasia

Labor Molekulargenetik, Abteilung Medizinische Genetik University Hospital Basel
Switzerland
11
  • T Targeted variant analysis

Results: 1 to 20 of 89

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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