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| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
NGS Panel for Congenital and Acquired Sideroblastic Anemia BloodGenetics Spain | 18 | 17 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 107 | 96 |
|
Molecular Vision Laboratory United States | 1358 | 1028 |
|
YARS2 - 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 | 406 | 414 |
|
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany | 451 | 452 |
|
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany | 442 | 443 |
|
Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
|
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 202 | 128 |
|
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
|
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 394 | 319 |
|
Invitae Iron Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 39 | 27 |
|
Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 249 | 155 |
|
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Labcorp Genetics (formerly Invitae) LabCorp United States | 75 | 72 |
|
YARS2 - myopathy, lactic acidosis and sideroblastic anemia Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
panel sideroblastic anemia (ABCB7, GLRX5, HSPA9, SLC25A38, STEAP3, ALAS2, PUS1, YARS2) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 8 | 8 |
|
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