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Results: 1 to 20 of 20
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 12 | 11 |
|
MYH3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
|
Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
|
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
|
PreventionGenetics, part of Exact Sciences United States | 177 | 163 |
|
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 183 | 142 |
|
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
|
PreventionGenetics, part of Exact Sciences United States | 13 | 11 |
|
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain | 135 | 69 |
|
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain | 89 | 52 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Contractures, pterygia, and spondylocarpostarsal fusion syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 1 |
|
Arthrogryposis, distal: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 13 | 9 |
|
Arthrogryposis multiplex congenita Institute of Human Genetics Cologne University Germany | 9 | 7 |
|
Distal Arthrogryposis, Massive Sequencing (NGS) 9 Genes Reference Laboratory Genetics Spain | 11 | 9 |
|
Congenital Contractures NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 81 | 57 |
|
Results: 1 to 20 of 20
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.