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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
Genetic Services Laboratory University of Chicago United States | 116 | 137 |
|
DPM3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 202 | 128 |
|
Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 480 | 254 |
|
DPM3 - Congenital disorder of glycosylation type Io Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Congenital Disorders of Glycosylation (CDG) Panel PreventionGenetics, part of Exact Sciences United States | 56 | 54 |
|
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 239 | 158 |
|
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 376 | 266 |
|
Invitae Congenital Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 64 | 28 |
|
Invitae Comprehensive Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 114 | 52 |
|
Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 203 | 152 |
|
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 353 | 208 |
|
Congenital Disorders of Glycosylation Panel Baylor Genetics United States | 29 | 27 |
|
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via the DPM3 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
|
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.