U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 13 of 13

Tests names and labsConditionsGenes, analytes, and microbesMethods

RIPPLY2 - NGS including CNV analysis

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

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Spondylocostal Dysostosis Panel

Invitae
United States
78
  • D Deletion/duplication analysis

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Congenital Diaphragmatic Hernia Panel

PreventionGenetics, Part of Exact Sciences
United States
11665
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylocostal dysostosis 6, 616566, Autosomal recessive; SCDO6 (Autosomal recessive spondylocostal dysostosis) (RIPPLY2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Spondylocostal dysostosis 6, 616566, Autosomal recessive; SCDO6 (Autosomal recessive spondylocostal dysostosis) (RIPPLY2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Klippel-Feil Syndrome Panel

PreventionGenetics, Part of Exact Sciences
United States
96
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylocostal dysostosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylocostal dysostosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylocostal dysostosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondylocostal Dysostosis Panel

PreventionGenetics, Part of Exact Sciences
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylocostal Dysostosis, Autosomal Recessive: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
66
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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.