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Results: 1 to 20 of 36 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Multiple pterygium syndrome, lethal type - CHRNG - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple pterygium syndrome, lethal type - CHRND - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple pterygium syndrome, lethal type - CHRNA1 - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple pterygium syndrome, lethal type (LMPS) - CHRND - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Multiple pterygium syndrome lethal type

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

Multiple pterygium syndrome lethal type

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

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Fetal and Neonatal Loss Panel

PreventionGenetics
United States
4041
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Fetal Concerns Sequencing Panel

PreventionGenetics
United States
3840
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CHRNA1. Complete sequencing

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

CHRNG. Complete sequencing

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

CHRND. Complete sequencing

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

Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel

PreventionGenetics
United States
711
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple Pterygium Syndrome via the CHRNG Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lethal multiple pterygium syndrome

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

Lethal multiple pterygium syndrome

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

Results: 1 to 20 of 36

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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