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Results: 1 to 20 of 66 (representing 35 labs)

Tests names and labsConditionsGenes and analytesMethods

FGFR3 gene Sequencing

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

Short Rib Skeletal Dysplasia NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
2419
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Thanatophoric Dysplasia (TD) via the FGFR3 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR3. Detection of the mutations p.Arg248Cys, p.Ser249Cys, p.Gly370Cys, p.Ser371Cys, p.Tyr373Cys, p.Lys650Gln and 807codon by sequencing

Instituto de Medicina Genomica
Spain
21
  • T Targeted variant analysis

FGFR3. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

Achondroplasia Mutation Panel

Baylor Genetics
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

FGFR3 Saddan (K650M)

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
11
  • E Sequence analysis of select exons

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
6421
  • -- Sequence analysis of the entire coding region

Thanatophoric Dysplasia

Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11
  • E Sequence analysis of select exons

PreSeek Non-invasive Prenatal Gene Sequencing Screen

Baylor Genetics
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

Invitae FGFR3-Related Disorders Test

Invitae
United States
111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Epilepsy NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
3053447
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region

Results: 1 to 20 of 66

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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