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Results: 1 to 20 of 118

Tests names and labsConditionsGenes, analytes, and microbesMethods

COL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

SLC6A3 Gene Parkinsonism-Dystonia, infantile NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

COL6A2 Gene Myosclerosis, autosomal recessive NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

COL6A2 Gene Bethlem myopathy NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Neuromuscular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

LGMD and CMS Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
265
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders exome

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

Muscular Dystrophy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
175
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
117137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL6A2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • 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 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 1, 158810, Autosomal recessive, Autosomal dominant (Bethlem myopathy) (COL6A2 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

Bethlem myopathy 1, 158810, Autosomal recessive, Autosomal dominant (Bethlem myopathy) (COL6A2 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

Ullrich congenital muscular dystrophy 1, 254090, Autosomal recessive, Autosomal dominant; UCMD1 (Congenital muscular dystrophy, Ullrich type) (COL6A2 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

Results: 1 to 20 of 118

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.