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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
Centogene AG - the Rare Disease Company Germany | 5 | 1 |
|
SLC2A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
|
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
|
Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States | 57 | 28 |
|
Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
|
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States | 346 | 160 |
|
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
|
Invitae Hereditary Hemolytic Anemia Panel Invitae United States | 74 | 39 |
|
Invitae Familial Hemiplegic Migraine Panel Invitae United States | 21 | 7 |
|
PreventionGenetics, part of Exact Sciences United States | 61 | 36 |
|
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
|
Familial Hemiplegic Migraine: gene sequence and deletion/duplication Ambry Genetics United States | 7 | 7 |
|
Epilepsy, idiopathic generalized, susceptibility to, 12, 614847, Autosomal dominant (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States | 170 | 99 |
|
Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
|
Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
|
Invitae United States | 466 | 297 |
|
Invitae Dystonia Comprehensive Panel Invitae United States | 61 | 38 |
|
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.