Panel naam | NGS Osteogenesis imperfecta en gerelateerde aandoeningen |
---|---|
Panel methode | Targeted NGS |
Panel versie ** | v4.0 |
Panel kwaliteit *** | A/C |
Core-NL | 8 core-NL genen inbegrepen |
CNV analyse | Ja |
Locatie | Locatie VUmc |
Genen (44) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
---|---|---|---|---|---|
ALPL | A | 100 | 100 | core-NL | |
AMBN | C | 100 | 100 | optioneel | |
ANO5 | C | 100 | 100 | ||
B3GALT6 | C | 100 | 100 | ||
B3GAT3 | C | 100 | 100 | ||
B4GALT7 | C | 100 | 100 | ||
BMP1 | C | 100 | 100 | ||
CCDC134 | C | 100 | 100 | ||
CHST3 | C | 100 | 100 | ||
COL1A1 | A | 100 | 100 | core-NL | |
COL1A2 | A | 100 | 100 | core-NL | |
CREB3L1 | C | 100 | 100 | ||
CRTAP | C | 100 | 100 | ||
DSPP | A | 100 | 100 | core-NL | optioneel |
FKBP10 | C | 100 | 100 | ||
GORAB | C | 100 | 100 | ||
IFITM5 | A | 100 | 100 | core-NL | |
KDELR2 | C | 100 | 100 | ||
LIFR | C | 100 | 100 | ||
LRP5 | A | 100 | 100 | core-NL | |
MBTPS2 | C | 100 | 100 | ||
MESD | C | 100 | 100 | ||
NBAS | C | 100 | 100 | ||
P3H1 | C | 100 | 100 | ||
P4HA1 | C | 100 | 100 | ||
P4HB | C | 100 | 100 | ||
PLOD2 | C | 100 | 100 | ||
PLOD3 | C | 100 | 100 | ||
PLS3 | A | 100 | 100 | core-NL | |
PPIB | C | 100 | 100 | ||
SEC24D | C | 100 | 100 | ||
SERPINF1 | C | 100 | 100 | ||
SERPINH1 | C | 100 | 100 | ||
SGMS2 | C | 100 | 100 | ||
SLC10A7 | C | 100 | 100 | ||
SP7 | C | 100 | 100 | ||
SPARC | C | 100 | 100 | ||
TAPT1 | C | 100 | 100 | ||
TENT5A | C | 100 | 100 | ||
TMEM38B | C | 100 | 100 | ||
WNT1 | C | 100 | 100 | core-NL | |
WNT11 | C | 100 | 100 | ||
XYLT1 | C | 100 | 100 | ||
XYLT2 | C | 100 | 100 |
Indicatie(s) |
---|
Bruck syndroom |
Dentinogenesis imperfecta |
Hypofosfatasie |
Osteogenesis imperfecta alle types |
Osteoporose juveniele |
Osteoporose pseudoglioom |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C