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Alport syndrome (NGS panel of 3 genes)
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Alport syndrome (sequence analysis of COL4A3 gene)
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Alport Syndrome (sequence analysis of COL4A4 gene)
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Alport syndrome (sequence analysis of COL4A5 gene)
+ info
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Alstrom syndrome (deletion/duplication analysis of ALMS1 gene)
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Alstrom syndrome (sequence analysis of ALMS1 gene)
+ info
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Alstrom syndrome (sequence analysis of exons 8, 10 and 16 of ALMS1 gene)
+ info
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Alternating hemiplegia of childhood 2 (sequence analysis of ATP1A3 gene)
+ info
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Alveolar capillary dysplasia with misalignment of pulmonary veins (deletion/duplication analysis of 16q24.1 region)
+ info
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Alveolar capillary dysplasia with misalignment of pulmonary veins (sequence analysis of FOXF1 gene)
+ info
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Alzheimer disease (disease exome based NGS panel for 14 genes)
+ info
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Alzheimer disease type 1 (sequence analysis of APP gene)
+ info
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Alzheimer disease type 1 (sequence analysis of exons 16 and 17 of APP gene)
+ info
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Alzheimer disease type 1, 3 e 4 (deletion/duplication analysis of APP, PSEN1 and PSEN2 genes)
+ info
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Alzheimer disease type 3 (sequence analysis of PSEN1 gene)
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Alzheimer disease type 4 (sequence analysis of PSEN2 gene)
+ info
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Alzheimers disease, early onset AD (sequence analysis of SORL1 gene)
+ info
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Amelogénesis imperfecta tipo IB,C (sequence analysis of ENAM gene)
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Amelogénesis imperfecta tipo IE (sequence analysis of AMELX gene)
+ info
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Amelogénesis imperfecta tipo IIA2 (sequence analysis of MMP20 gene)
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