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Results: 1 to 19 of 19

Tests names and labsConditionsGenes, analytes, and microbesMethods

NEK9 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

Congenital contracture syndrome extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital contracture syndrome extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lethal congenital contracture syndrome and related disorders NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome 10, 617022, Autosomal recessive; LCCS10 (NEK9-related lethal skeletal dysplasia) (NEK9 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

Lethal congenital contracture syndrome 10, 617022, Autosomal recessive; LCCS10 (NEK9-related lethal skeletal dysplasia) (NEK9 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

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lethal congenital contracture syndrome and related disorders NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome and related disorders Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
1322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital contracture syndrome extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lethal congenital contracture syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1111
  • C Sequence analysis of the entire coding region

Congenital Contractures NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8157
  • C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.