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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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MPLKIP - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 157 | 151 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 754 | 562 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Trichothiodystrophy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 6 |
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Trichothiodystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 6 | 6 |
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HNL Genomics Connective Tissue Gene Tests United States | 6 | 6 |
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Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 552 | 424 |
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Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 148 | 73 |
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Trichothiodystrophy, nonphotosensitive 1 (sequence analysis of MPLKIP gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain | 60 | 23 |
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Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain | 58 | 31 |
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Duzen Laboratories Duzen BBAGUAS Turkey | 1 | 1 |
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Asper Biogene Asper Biogene LLC Estonia | 67 | 47 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
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Trichothiodystrophy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 6 | 6 |
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Fulgent Genetics United States | 98 | 43 |
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Amish Brittle Hair Brain Syndrome (MPLKIP) Targeted Testing DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States | 1 | 1 |
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Ichthyoses and related disorders of cornification Panel CeGaT GmbH Germany | 42 | 65 |
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