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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

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 4, autosomal recessive, 613686, Autosomal recessive; SCDO4 (Autosomal recessive spondylocostal dysostosis) (HES7 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 4, autosomal recessive, 613686, Autosomal recessive; SCDO4 (Autosomal recessive spondylocostal dysostosis) (HES7 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

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 via the HES7 Gene

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

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

HES7

Institute for Human Genetics University Medical Center Freiburg
Germany
11
  • C Sequence analysis of the entire coding region

HES7 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication 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

Spondylocostal Dysostosis , Panel Massive Sequencing (NGS) 5 Genes

Reference Laboratory Genetics
Spain
55
  • C Sequence analysis of the entire coding region

SPONDYLOCOSTAL DYSOSTOSIS (SYNDROME DE JARCHO-LEVIN)

Laboratorio de Genetica Clinica SL
Spain
55
  • C Sequence analysis of the entire coding region

Autosomal Recessive Spondylocostal Dysostosis Type 4 , Sequencing HES7 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Autosomal recessive spondylocostal dysostosis type 4

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Autosomal recessive spondylocostal dysostosis type 4

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Heterotaxy Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
156114
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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.