Otorhinolaryngology
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Alpha-mannosidase (sequence analysis of MAN2B1 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 (sequence analysis of ALMS1 gene)
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Alstrom syndrome (sequence analysis of exons 8, 10 and 16 of ALMS1 gene)
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Aplasia of lacrimal and salivary glands (sequence analysis of FGF10 gene)
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Ashkenazi panel (NGS panel of 26 genes)
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Athabaskan brainstem dysgenesis syndrome (sequence analysis of HOXA1 gene)
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Auditory neuropathy 1 AD (sequence analysis of DIAPH3 gene)
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Auriculocondylar syndrome 2 (sequence analysis of PLCB4 gene)
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