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Results: 1 to 20 of 61

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Myasthenic Syndrome Panel

Genetic Services Laboratory University of Chicago
United States
1223
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

CHRNA1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Congenital Myasthenic Syndrome Panel

PreventionGenetics, Part of Exact Sciences
United States
5831
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, Part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple pterygium syndrome, lethal type NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
73
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple pterygium syndrome, lethal type Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
73
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple pterygium syndrome, lethal type Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
73
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myasthenic syndrome, congenital, 1B, fast-channel, 608930, Autosomal recessive, Autosomal dominant; CMS1B (Congenital myasthenic syndrome) (CHRNA1 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

Myasthenic syndrome, congenital, 1B, fast-channel, 608930, Autosomal recessive, Autosomal dominant; CMS1B (Congenital myasthenic syndrome) (CHRNA1 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Multiple pterygium syndrome, lethal type NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
73
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple pterygium syndrome, lethal type Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
73
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple pterygium syndrome, lethal type Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
73
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Panel

PreventionGenetics, Part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Myasthenic Syndrome Panel

Invitae
United States
3821
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Congenital Myasthenic Syndromes via the CHRNB1 Gene

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

Results: 1 to 20 of 61

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.