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Results: 1 to 20 of 58

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

Ellis-van Creveld syndrome

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

Ellis-van Creveld syndrome

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

Skeletal dysplasia ciliopathy Comprehensive panel

Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia ciliopathy NGS panel

Connective Tissue Gene Tests
United States
2019
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasia ciliopathy Deletion / Duplication panel

Connective Tissue Gene Tests
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ellis-van Creveld syndrome and Weyers acrofacial dysostosis Comprehensive Panel

Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ellis-van Creveld syndrome and Weyers acrofacial dysostosis NGS Panel

Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ellis-van Creveld syndrome and Weyers acrofacial dysostosis Deletion / Duplication Panel

Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

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

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

EVC. Complete sequencing

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

Ellis-van Creveld Syndrome via the EVC2 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ellis-van Creveld Syndrome via the EVC Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ellis-van Creveld Syndrome (EVC) Sequencing Panel

PreventionGenetics
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

EVC2-Related Ellis-van Creveld Syndrome

Hehr Laboratory Center for Human Genetics - University of Regensburg
Germany
11
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

EVC-Related Ellis-van Creveld Syndrome

Hehr Laboratory Center for Human Genetics - University of Regensburg
Germany
11
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 58

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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