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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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KRT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 6 | 1 |
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KRT9 - 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 Congenital Ichthyosis Panel Invitae United States | 77 | 45 |
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Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae United States | 95 | 45 |
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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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Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 125 | 69 |
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Palmoplantar Keratoderma, Epidermolytic via the KRT9 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Epidermolytic Hyperkeratosis via the KRT1 Gene PreventionGenetics, part of Exact Sciences United States | 5 | 1 |
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Congenital Ichthyosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States | 20 | 19 |
|
Palmoplantar keratoderma, epidermolytic (sequence analysis of KRT9 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Ichthyosis panel. 31-gene NGS panel. Genologica Medica Spain | 58 | 31 |
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Genologica Medica Spain | 123 | 68 |
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Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain | 62 | 25 |
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Epidermolysis bullosa panel. NGS panel of 24 genes. Genologica Medica Spain | 55 | 24 |
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Asper Biogene Asper Biogene LLC Estonia | 18 | 11 |
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Asper Biogene Asper Biogene LLC Estonia | 67 | 47 |
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Asper Biogene Asper Biogene LLC Estonia | 48 | 25 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
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