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Results: 1 to 20 of 32 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769513
  • C Sequence analysis of the entire coding region

Beare-Stevenson cutis gyrata syndrome (BSTVS) - Sanger Sequencing

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

Beare-Stevenson cutis gyrata syndrome

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

FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
207
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel

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

FGFR2-Related disorders - Del/Dup Analysis

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
111
  • D Deletion/duplication analysis

Beare-Stevenson Syndrome - FGFR2 Targeted Mutations

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

FGFR2-Related disorders - Sequencing

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
111
  • C Sequence analysis of the entire coding region

Craniosynostosis

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
6421
  • 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

Craniosynostosis

Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health and Science University
United States
1725
  • C Sequence analysis of the entire coding region

Invitae Craniosynostosis Panel

Invitae
United States
149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing FGFR2

CeGaT GmbH
Germany
111
  • C Sequence analysis of the entire coding region

FGFR2

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

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
371161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FGFR-Related Craniosynostosis NGS Panel

Fulgent Genetics
United States
253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia

Asper Biotech Asper Biotech Ltd.
Estonia
2510
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
365163
  • C Sequence analysis of the entire coding region

Limb Malformation: Sequencing Panel

Emory Genetics Laboratory Emory University School of Medicine
United States
12146
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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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