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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Nephrolithiasis panel. 35-gene NGS panel. Genologica Medica Spain | 60 | 35 |
|
Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes. Genologica Medica Spain | 175 | 102 |
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Mitochondrial DNA depletion syndrome panel. 25-gene NGS panel. Genologica Medica Spain | 50 | 25 |
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Cataract panel. NGS panel of 69 genes. Genologica Medica Spain | 146 | 69 |
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Autosomal Dominant Hearing Loss. 25-gene NGS panel. Genologica Medica Spain | 48 | 23 |
|
Skeletal disease dysplasia panel with abnormal mineralization. 32-gene NGS panel. Genologica Medica Spain | 60 | 32 |
|
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain | 133 | 84 |
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Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
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Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
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Optic atrophy. NGS panel of 13 genes. Genologica Medica Spain | 29 | 13 |
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Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain | 146 | 94 |
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Optic atrophy panel. NGS panel of 19 genes. Genologica Medica Spain | 38 | 19 |
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Fatty acid oxidation syndrome panel. NGS panel of 26 genes. Genologica Medica Spain | 30 | 26 |
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Congenital and familial lipodystrophy panel. NGS panel of 11 genes. Genologica Medica Spain | 29 | 11 |
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Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain | 420 | 257 |
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Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
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Mono and Disaccharide Congenital Disorders Panel. 9-gene NGS panel. Genologica Medica Spain | 14 | 9 |
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Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain | 62 | 25 |
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Monogenic obesity panel. 36-gene NGS panel. Genologica Medica Spain | 55 | 36 |
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Hypophosphatemic rickets panel. NGS panel of 13 genes. Genologica Medica Spain | 25 | 13 |
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