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Results: 1 to 20 of 42

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • 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

COL12A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue and Related Disorder Panel

Centogene AG - the Rare Disease Company
Germany
7576
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

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

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
34
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
34
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
34
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bethlem myopathy 2, 616471; BTHLM2 (Bethlem myopathy) (COL12A1 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

Bethlem myopathy 2, 616471; BTHLM2 (Bethlem myopathy) (COL12A1 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

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

Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
34
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
34
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
34
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Ehlers-Danlos Syndrome Panel

Invitae
United States
3817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 42

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.