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