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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
CAV3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
|
Creatine phosphokinase, elevated serum, 123320, Autosomal dominant (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae United States | 409 | 164 |
|
Invitae United States | 208 | 81 |
|
Ambry Genetics United States | 33 | 17 |
|
Ambry Genetics United States | 91 | 42 |
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Ambry Genetics United States | 236 | 167 |
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Ambry Genetics United States | 189 | 92 |
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Invitae Comprehensive Muscular Dystrophy Panel Invitae United States | 114 | 52 |
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Invitae Limb-Girdle Muscular Dystrophy Panel Invitae United States | 91 | 37 |
|
Invitae Comprehensive Myopathy Panel Invitae United States | 143 | 70 |
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Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
|
Genetics Center United States | 2 | 1 |
|
GeneDx United States | 12 | 10 |
|
Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
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Inclusion Body Myopathy NGS Panel Fulgent Genetics United States | 21 | 5 |
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Rippling Muscle Disease (CAV3 Single Gene Test) Fulgent Genetics United States | 5 | 1 |
|
Fulgent Genetics United States | 186 | 61 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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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.