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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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PLEKHG5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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Distal hereditary motor neuropathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 24 |
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Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 24 |
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Distal hereditary motor neuropathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 24 |
|
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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
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Fundamental Panel (CF and SMA) Myriad Genetics, Inc. United States | 6 | 2 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Distal hereditary motor neuropathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 24 |
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Distal hereditary motor neuropathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 24 |
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Distal hereditary motor neuropathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 24 |
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Invitae Hereditary Motor Neuropathy Panel Invitae United States | 60 | 26 |
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Invitae Comprehensive Neuropathies Panel Invitae United States | 201 | 96 |
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Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States | 123 | 52 |
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Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain | 65 | 30 |
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Laboratorio de Genetica Clinica SL Spain | 5 | 16 |
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Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 76 | 54 |
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Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States | 93 | 29 |
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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.