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NGS Marfan syndrome and marfan-like disorders

Panel name NGS Marfan syndrome and marfan-like disorders
Panel method Targeted NGS
Panel version ** v4.0
Panel quality *** A/C
Core-NL 11 core-NL genes included
CNV analysis Yes
Location Location VUmc
Genes (25) Quality % coverage >30 % coverage >20 Core-NL Note
ABL1 C 100 100
BGN A 100 100 core-NL
CBS A 100 100 core-NL
COL3A1 A 100 100 core-NL
EFEMP1 C 100 100
FBN1 A 100 100 core-NL
FBN2 A 100 100 core-NL
FKBP14 C 100 100
IPO8 C 100 100
LOX C 100 100
LTBP3 C 100 100
MFAP5 C 100 100
NPR2 C 100 100
NPR3 C 100 100
PLOD1 C 100 100
PMEPA1 C 100 100
SKI C 100 100
SLC2A10 C 100 100
SMAD2 A 100 100 core-NL
SMAD3 A 100 100 core-NL
TGFB2 A 100 100 core-NL
TGFB3 A 100 100 core-NL
TGFBR1 A 100 100 core-NL
TGFBR2 A 100 100 core-NL
THSD4 C 100 100
Indication(s)
Loeys-Dietz syndrome
Marfan syndrome

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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