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Results: 1 to 20 of 77 (representing 36 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Pfeiffer syndrome

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

Pfeiffer syndrome

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

Pfeiffer syndrome

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

Craniofacial-skeletal-dermatologic dysplasia

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

FGFR1 Gene Sequencing

GENETIX Centro de Investigación en Genética Humana y Reproductiva
Colombia
62
  • C Sequence analysis of the entire coding region

Craniodysmorphology Panel (FGFR1,2,3,TWIST)

Center for Genetics at Saint Francis Saint Francis Hospital
United States
84
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Short Rib Skeletal Dysplasia Sequencing 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 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

Apert Syndrome, Crouzon Syndrome, Pfeiffer Syndrome

Human Genetics University Hospital Bern
Switzerland
31
  • 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 via the FGFR2 Gene

PreventionGenetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FGFR1-Related Disorders via the FGFR1 Gene

PreventionGenetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniodysmorphology Screen (Targeted FGFR1,2, and 3)

Center for Genetics at Saint Francis Saint Francis Hospital
United States
73
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Pfeiffer Syndrome - FGFR1 Sequencing

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

FGFR1-Related Disorders - Del/Dup Analysis

Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
United States
51
  • D Deletion/duplication analysis

Results: 1 to 20 of 77

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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