Nephrology
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Acyl-CoA dehydrogenase, medium chain deficiency (c.985A>G mutation on ACADM gene)
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Alanine-glyoxylate aminotransferase deficiency (primary hyperoxaluria type 1) (deletion/duplication analysis on AGXT gene)
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Alkaptonuria (sequence analysis of HGD gene)
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Alport syndrome (deletion/duplication analysis of COL4A3 gene)
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Alport syndrome (deletion/duplication analysis of COL4A4 gene)
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Alport syndrome (deletion/duplication analysis on COL4A5 gene)
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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)
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Alstrom syndrome (deletion/duplication analysis of ALMS1 gene)
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Apolipoprotein E deficiency (sequence analysis of APOE gene)
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Arthrogryposis, renal dysfunction and cholestasis 1 (deletion/duplication analysis of VPS33B gene)
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Arthrogryposis, renal dysfunction and cholestasis 1 (sequence analysis of VPS33B gene)
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Asphyxiating thoracic dystrophy of the newborn type 3 (deletion/duplication in the DYNC2H1 gene)
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Atypical hemolytic uremic syndrome (deletion/duplication analysis on CFH, CFHR1, CFHR2, CFHR3 and CFHR5 genes)
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Atypical hemolytic uremic syndrome type 2 (deletion/duplication analysis on CD46 and CFI genes)
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Atypical hemolytic-uremic syndrome (deletion/duplication analysis of DGKE gene)
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Atypical hemolytic-uremic syndrome (sequence analysis of CFI gene)
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Atypical hemolytic-uremic syndrome (sequence analysis of DGKE gene)
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