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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
LPIN1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
|
Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 669 | 688 |
|
Centogene AG - the Rare Disease Company Germany | 325 | 316 |
|
Centogene AG - the Rare Disease Company Germany | 829 | 848 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Invitae Progressive Renal Disease Panel Invitae United States | 310 | 195 |
|
LPIN1 - Acute Recurrent Myoglobinuria Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Disorders of Fatty Acid Oxidation (FAOD) Panel PreventionGenetics, part of Exact Sciences United States | 32 | 32 |
|
Invitae Comprehensive Glycogen Storage Disease Panel Invitae United States | 37 | 28 |
|
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 106 | 83 |
|
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
|
Fatty Acid Oxidation Panel (MitomeNGS) Baylor Genetics United States | 16 | 17 |
|
LPIN1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 1 | 1 |
|
LPIN1 Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
|
Baylor Genetics United States | 1 | 1 |
|
LPIN1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
|
Baylor Genetics United States | 842 | 637 |
|
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.