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L-2-hydroxyglutaric aciduria (sequence analysis of L2HGDH gene)
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Lacticacidemia due to PDX1 deficiency (sequence analysis of PDHX gene)
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Lactose intolerance (polymorphisms - 13910C>T;c.1917+326C>T and - 22018G>A;c.1362+117G>A on MCM6 gene)
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Lactose intolerance, adult type (sequence analysis of MCM6 gene)
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LADD syndrome (sequence analysis of FGF10 gene)
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Laron syndrome (sequence analysis of GHR gene)
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Larsen syndrome (deletion/duplication analysis on FLNB gene)
+ info
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Larsen syndrome (sequence analysis of B3GAT3 gene)
+ info
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Larsen syndrome (sequence analysis of FLNB gene)
+ info
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Late-onset alzheimer disease susceptibility (sequence analysis of NOS3 gene)
+ info
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LCAD deficiency (sequence analysis of ACADL gene)
+ info
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LCAT deficiency (deletion/duplication analysis on LCAT gene)
+ info
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LCAT deficiency (sequence analysis of LCAT gene)
+ info
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LCHAD deficiency (sequence analysis of HADHA gene)
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Leber congenital amaurosis (deletion/duplication analysis on AIPL1, CRB1, CRX, LCA5 and RPE65 genes)
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Leber congenital amaurosis (deletion/duplication analysis on GUCY2D, RDH12, RPGRIP1 and CEP290 genes)
+ info
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Leber congenital amaurosis (NGS panel of 20 genes)
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Leber congenital amaurosis (sequence analysis of LRAT gene)
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Leber congenital amaurosis (sequence analysis of RPGRIP1 gene)
+ info
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Leber congenital amaurosis 1 (sequence analysis of GUCY2D gene)
+ info
