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Auriculocondylar syndrome type 1 (sequence analysis of GNAI3 gene)
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Autism (WES based NGS panel for 156 genes)
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Autism susceptibility 17 (sequence analysis of SHANK2 gene)
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Autism susceptibility 18 (sequence analysis of CHD8 gene)
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Autism susceptibility, X-linked type 5 (sequence analysis of RPL10 gene)
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Autoimmune interstitial lung disease - arthritis syndrome (sequence analysis of COPA gene)
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Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FAS gene)
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Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FASLG)
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Autoimmune lymphoproliferative syndrome (sequence analysis of CTLA4 gene)
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Autoimmune lymphoproliferative syndrome (sequence analysis of FAS gene)
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Autoimmune lymphoproliferative syndrome (sequence analysis of FASLG gene)
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Autoimmune lymphoproliferative syndrome type II (sequence analysis of CASP10 gene)
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Autoimmune polyendocrinopathy syndrome (sequence analysis of AIRE gene)
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Autoimmune polyglandular syndrome (deletion/duplication analysis of AIRE gene)
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Autoinflammation, lipodystrophy and dermatosis syndrome (sequence analysis of PSMB8 gene)
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Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency (sequence analysis of IL1RN gene)
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Autoinflammatory syndrome, familial, Behcet-like (deletion/duplication analysis of TNFAIP3 gene)
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Autoinflammatory syndrome, familial, Behcet-like (sequence analysis of TNFAIP3 gene)
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Autosomal dominant polycystic kidney disease (NGS panel of 4 genes, analysis of PKD1 gene based on Long-Range PCR)
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Autosomal dominant polycystic kidney disease (sequence analysis of PKD1 and PKD2 genes, analysis of PKD1 gene based on Long-Range PCR)
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