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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
GPC4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 777 | 770 |
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qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 150 | 88 |
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CGC Genetics Unilabs Portugal | 1 | 1293 |
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Wilms tumor (WES based NGS panel for 16 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 16 |
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Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
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Simpson-Golabi-Behmel syndrome (deletion/duplication analysis of GPC3 and GPC4 genes) CGC Genetics Unilabs Portugal | 1 | 2 |
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X-LINKED INTELLECTUAL DISABILITY EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 143 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 249 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
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Beckwith-Wiedemann syndrome panel Genologica Medica Spain | 20 | 10 |
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Beckwith-Wiedemann syndrome panel. NGS panel of 10 genes. Genologica Medica Spain | 20 | 10 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
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GeneDx United States | 2 | 2592 |
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GeneDx United States | 1 | 1501 |
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Mental retardation - different panels Institute of Human Genetics Cologne University Germany | 7 | 2536 |
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SIMPSON-GOLABI-BEHMEL SYNDROME Laboratorio de Genetica Clinica SL Spain | 1 | 2 |
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