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Acromesomelic dysplasia, Hunter-Thompson type (sequence analysis of GDF5 gene)
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Acromesomelic dysplasia, Maroteaux type (sequence analysis of NPR2 gene)
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ACTH-independent adrenal macronodular hyperplasia, type 2 (ARMC5)
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Acute intermittent porphyria (deletion/duplication analysis on HMBS gene)
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Acute megakaryoblastic leukemia and transient myeloproliferative disease associated with Down syndrome (search of somatic mutations on GATA1 gene)
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Acute myelogenous leukemia (detection of mutations PTD on KMT2A gene)
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Acute myeloid leukemia (AML, sequence analysis of FLT3 gene)
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Acute myeloid leukemia (AML, sequence analysis of PICALM gene)
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Acute myeloid leukemia (deletion/duplication analysis of RUNX1 gene)
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Acute myeloid leukemia (detection of somatics mutations of CEBPA gene)
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Acute myeloid leukemia (detection of somatics mutations of exon 12 of NPM1 gene)
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Acute myeloid leukemia | Glioma | Ollier disease (detection of somatic mutations of exon 4 of IDH1 and IDH2 genes)
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Acute necrotizing encephalopathy (sequence analysis of RANBP2 gene)
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Acute porphyria (NGS panel of 9 genes)
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Acute porphyrias (sequence analysis of CPOX, PPOX and HMBS genes)
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Acyl-CoA dehydrogenase 9 deficiency (sequence analysis of ACAD9 gene)
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Acyl-CoA dehydrogenase, medium chain deficiency (c.985A>G mutation on ACADM gene)
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Acyl-CoA medium-chain dehydrogenase deficiency (sequence analysis of ACADM gene)
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Acyl-CoA peroxisomal oxidase deficiency (sequence analysis of ACOX1 gene)
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Adams-Oliver syndrome (AOS2, sequence analysis of DOCK6 gene)
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