Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
COL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
ATP6AP2 Gene Parkinsonism with spasticity, X-linked NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
COL6A1 Gene Bethlem myopathy NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 216 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 2 | 65 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 75 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
COL6A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 325 | 316 |
|
Centogene AG - the Rare Disease Company Germany | 740 | 728 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 4 |
|
Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 4 |
|
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 4 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Genomic Unity Muscular Dystrophy Analysis Variantyx, Inc. United States | 4 | 51 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
|
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.