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NGS Preconception panel

Panel name NGS Preconception panel
Panel method Targeted NGS
Panel version ** PCOv2 / BMUTtypeAv1
Panel quality *** A
Core-NL No core-NL genes included
CNV analysis Yes
Note ELP1 - exon 19.20 only; HGSNAT - exon1 = typeC; NEB - exons 53-57 only; TSEN54 - exon 1 = typeC;
Location Location AMC
Genes (50) Quality % coverage >30 % coverage >20 Core-NL Note
AGA A 100.00 100.00
ALDH3A2 A 100.00 100.00
ARSA A 100.00 100.00
ASPA A 100.00 100.00
ASS1 A 100.00 100.00
BCKDHB A 100.00 100.00
BLM A 100.00 100.00
CBS A 100.00 100.00
CFTR A 100.00 100.00
CLN3 A 100.00 100.00
CLN5 A 100.00 100.00
COL17A1 A 100.00 100.00
CRTAP A 100.00 100.00
DHCR7 A 100.00 100.00
ELP1 A 100.00 100.00 Alleen exon 19, 20 Kwaliteit A, rest type C
FANCC A 100.00 100.00
G6PC1 A 100.00 100.00
GAA A 100.00 100.00
GALC A 100.00 100.00
HADHA A 100.00 100.00
HBB A 100.00 100.00
HEXA A 100.00 100.00
HGSNAT A 100.00 100.00 Kwaliteit A, muv exon 1 (kwaliteit C)
HSD17B4 A 100.00 100.00
IDUA A 100.00 100.00
IVD A 100.00 100.00
LAMA3 A 100.00 100.00
LAMB3 A 100.00 100.00
LAMC2 A 100.00 100.00
MAN2B1 A 100.00 100.00
MCOLN1 A 100.00 100.00
MLC1 A 100.00 100.00
MUSK A 100.00 100.00
NBN A 100.00 100.00
NEB A 100.00 100.00 Alleen exonen 53-57 kwaliteit A, rest kwaliteit C
NPC1 A 100.00 100.00
PEX1 A 100.00 100.00
PEX12 A 100.00 100.00
PEX7 A 100.00 100.00
PMM2 A 100.00 100.00
POLG A 100.00 100.00
PPT1 A 100.00 100.00
SACS A 100.00 100.00
SGSH A 100.00 100.00
SMN1 A 100.00 100.00
SMPD1 A 100.00 100.00
TMEM216 A 100.00 100.00
TPP1 A 100.00 100.00
TSEN54 A 100.00 100.00 Kwaliteit A, muv exon 1 (kwaliteit C)
TTPA A 100.00 100.00
Indication(s)

** 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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