Neurology / Neuropediatrics
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Hereditary spastic paraplegias (deletion/duplication analysis of REEP1 and SPG7 genes)
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Heterotaxy (WES based NGS panel for 8 genes, including CNV analysis)
+ info
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Heterotaxy visceral 2, autosomal (sequence analysis of CFC1 gene)
+ info
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Hirschsprung disease (sequence analysis of EDN3 gene)
+ info
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Hirschsprung disease (sequence analysis of EDNRB gene)
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Hirschsprung disease (sequence analysis of GDNF gene)
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Hirschsprung disease, cardiac defects, and autonomic dysfunction (sequence analysis of ECE1 gene)
+ info
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Histiocytosis-lymphadenopathy plus syndrome (deletion/duplication analysis of SLC29A3 gene)
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Histiocytosis-lymphadenopathy plus syndrome (sequence analysis of SLC29A3 gene)
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Holocarboxylase synthetase deficiency (deletion/duplication analysis on HLCS gene)
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Holocarboxylase synthetase deficiency (sequence analysis of HLCS gene)
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Holoprosencephaly (deletion/duplication analysis on PTCH, SHH, ZIC2, SIX3, TGIF, TRAPPC10, GLI2 and FBXW11 genes)
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Holoprosencephaly (deletion/duplication analysis on SHH gene)
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Holoprosencephaly (NGS panel of 9 genes)
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Holoprosencephaly (sequence analysis of SHH gene)
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Holoprosencephaly (sequence analysis of ZIC2 gene)
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Holoprosencephaly 11 (sequence analysis of CDON gene)
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Holoprosencephaly 2 (sequence analysis of SIX3 gene)
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Holoprosencephaly 4 (sequence analysis of TGIF1 gene)
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Homocystinuria-megaloblastic anemia, cbl E type (sequence analysis of MTRR gene)
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