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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Gaucher disease, type III, 231000, Autosomal recessive (Gaucher disease) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Gaucher disease, type III, 231000, Autosomal recessive (Gaucher disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 58 | 18 |
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GBA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 7 | 1 |
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Invitae Gaucher Common Variants Test Labcorp Genetics (formerly Invitae) LabCorp United States | 7 | 1 |
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Invitae Hereditary Parkinson Disease and Parkinsonism Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 44 | 26 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
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Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
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Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 171 | 137 |
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Invitae Comprehensive Lysosomal Storage Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 87 | 57 |
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Invitae Lysosomal Storage Disorders Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 19 | 10 |
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Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 239 | 158 |
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Gaucher Disease via the GBA1/GBA Gene PreventionGenetics, part of Exact Sciences United States | 4 | 1 |
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MNG Laboratories (Medical Neurogenetics, LLC.) United States | 414 | 800 |
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Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India | 376 | 317 |
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Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain | 175 | 102 |
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Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain | 135 | 69 |
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