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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
GLB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
|
Carrier Screening Guidelines-Based Panel Ambry Genetics United States | 199 | 164 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
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Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
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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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Invitae Metabolic Non-Immune Fetal Hydrops Panel Invitae United States | 50 | 51 |
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Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States | 247 | 163 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Myriad Genetics, Inc. United States | 4 | 1 |
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Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 201 | 211 |
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Mucopolysaccharidosis NGS panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Mucopolysaccharidosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Mucopolysaccharidosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 17 | 14 |
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Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
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Invitae Mucopolysaccharidoses Plus (MPS+) Panel Invitae United States | 38 | 27 |
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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.