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Aicardi syndrome (sequence analysis of TEAD1 gene)
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Aicardi-Goutieres syndrome (NGS panel of 7 genes)
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Aicardi-Goutieres syndrome 1 (deletion/duplication on TREX1 gene)
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Aicardi-Goutieres syndrome 1 (sequence analysis of TREX1 gene)
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Aicardi-Goutieres syndrome 2 (sequence analysis of RNASEH2B gene)
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Aicardi-Goutieres syndrome 3 (sequence analysis of RNASEH2C gene)
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Aicardi-Goutieres syndrome 4 (sequence analysis of RNASEH2A gene)
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Aicardi-Goutieres syndrome type 5 (sequence analysis of SAMHD1 gene)
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Aicardi-Goutieres syndrome, 2 (deletion/duplication analysis on RNASEH2B gene)
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Alagille syndrome (deletion/duplication analysis on JAG1 gene)
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Alagille syndrome 2 (deletion/duplication analysis on NOTCH2 gene)
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Alagille syndrome 2 (sequence analysis of NOTCH2 gene)
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Alagille syndrome | Tetralogy of Fallot (sequence analysis of JAG1 gene)
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Aland Island eye disease (sequence analysis of CACNA1F gene)
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Alanine-glyoxylate aminotransferase deficiency (primary hyperoxaluria type 1) (deletion/duplication analysis on AGXT gene)
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Albinism (NGS panel of 12 genes)
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Albinism oculocutaneous (deletion/duplication analysis on OCA2 and TYR genes)
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Albinism oculocutaneous type II (sequence analysis of OCA2 gene)
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Albinism oculocutaneous type VI (sequence analysis of SLC24A5 gene)
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Albinism oculocutaneous type VII (sequence analysis of C10orf11 gene)
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