| Panel naam | NGS Foetale akinesie-deformatiesequentie FADS |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | v6 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (194) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ACTA1 | C | 100.00 | 100.00 | NM_001100.4 | |
| ACVR1 | C | 100.00 | 100.00 | NM_001111067.4 | |
| ADCY6 | C | 100.00 | 100.00 | NM_015270.5 | |
| ADGRG6 | C | 100.00 | 100.00 | NM_198569.3 | |
| AGL | C | 99.78 | 99.97 | NM_000642.3 | |
| AGRN | C | 99.99 | 100.00 | NM_198576.4 | |
| ALG3 | C | 100.00 | 100.00 | NM_005787.6 | |
| AMER1 | C | 100.00 | 100.00 | NM_152424.4 | |
| ANO5 | C | 100.00 | 100.00 | NM_213599.3 | |
| ASCC1 | C | 100.00 | 100.00 | NM_001198800.3 | |
| ATP1A3 | C | 100.00 | 100.00 | NM_152296.5 | |
| ATP2A1 | C | 99.93 | 100.00 | NM_004320.6 | |
| ATP7A | C | 99.97 | 99.99 | NM_000052.7 | |
| B3GALNT2 | C | 99.88 | 99.99 | NM_152490.5 | |
| B4GAT1 | C | 100.00 | 100.00 | NM_006876.3 | |
| BAG3 | C | 100.00 | 100.00 | NM_004281.4 | |
| BICD2 | C | 100.00 | 100.00 | NM_001003800.2 | |
| BIN1 | C | 100.00 | 100.00 | NM_139343.3 | |
| CACNA1S | C | 100.00 | 100.00 | NM_000069.3 | |
| CACNB2 | C | 100.00 | 100.00 | NM_201596.3 | |
| CAPN3 | C | 100.00 | 100.00 | NM_000070.3 | |
| CASQ1 | C | 99.93 | 99.99 | NM_001231.5 | |
| CAV3 | C | 100.00 | 100.00 | NM_033337.3 | |
| CAVIN1 | C | 100.00 | 100.00 | NM_012232.6 | |
| CCDC78 | C | 100.00 | 100.00 | NM_001378030.1 | |
| CFL2 | C | 100.00 | 100.00 | NM_138638.5 | |
| CHAT | C | 99.89 | 100.00 | NM_020549.5 | |
| CHCHD10 | C | 100.00 | 100.00 | NM_213720.3 | |
| CHKB | C | 100.00 | 100.00 | NM_005198.5 | |
| CHRNA1 | C | 100.00 | 100.00 | NM_000079.4 | |
| CHRNB1 | C | 100.00 | 100.00 | NM_000747.3 | |
| CHRND | C | 100.00 | 100.00 | NM_000751.3 | |
| CHRNE | C | 100.00 | 100.00 | NM_000080.4 | |
| CHRNG | C | 100.00 | 100.00 | NM_005199.5 | |
| CHST14 | C | 100.00 | 100.00 | NM_130468.4 | |
| CLCN1 | C | 100.00 | 100.00 | NM_000083.3 | |
| CNTN1 | C | 100.00 | 100.00 | NM_001843.4 | |
| CNTNAP1 | C | 99.98 | 99.99 | NM_003632.3 | |
| COL12A1 | C | 100.00 | 100.00 | NM_004370.6 | |
| COL13A1 | C | 99.91 | 99.94 | NM_001368882.1 | |
| COL6A1 | C | 100.00 | 100.00 | NM_001848.3 | |
| COL6A2 | C | 100.00 | 100.00 | NM_001849.4 | |
| COL6A3 | C | 100.00 | 100.00 | NM_004369.4 | |
| COLQ | C | 100.00 | 100.00 | NM_005677.4 | |
| CPT2 | C | 100.00 | 100.00 | NM_000098.3 | |
| CRPPA | |||||
| CRYAB | C | 100.00 | 100.00 | NM_001289808.2 | |
| DAG1 | C | 100.00 | 100.00 | NM_004393.6 | |
| DENND5A | C | 100.00 | 100.00 | NM_015213.4 | |
| DES | C | 100.00 | 100.00 | NM_001927.4 | |
| DHCR24 | C | 100.00 | 100.00 | NM_014762.4 | |
| DMD | C | 100.00 | 100.00 | NM_004006.3 | |
| DMPK | C | 100.00 | 100.00 | NM_004409.5 | |
| DNA2 | C | 100.00 | 100.00 | NM_001080449.3 | |
| DNAJB6 | C | 100.00 | 100.00 | NM_058246.4 | |
| DNM2 | C | 100.00 | 100.00 | NM_001005361.3 | |
| DNM3 | C | 99.84 | 100.00 | NM_015569.5 | |
| DOK7 | C | 100.00 | 100.00 | NM_173660.5 | |
| DPAGT1 | C | 100.00 | 100.00 | NM_001382.4 | |
| DPM1 | C | 100.00 | 100.00 | NM_003859.3 | |
| DPM2 | C | 100.00 | 100.00 | NM_003863.4 | |
| DPM3 | C | 100.00 | 100.00 | NM_153741.2 | |
| DYNC1H1 | C | 100.00 | 100.00 | NM_001376.5 | |
| DYSF | C | 99.98 | 100.00 | NM_001130987.2 | |
| ECEL1 | C | 100.00 | 100.00 | NM_004826.4 | |
| EGR2 | C | 100.00 | 100.00 | NM_001136178.2 | |
| EMD | C | 100.00 | 100.00 | NM_000117.3 | |
| ENO3 | C | 100.00 | 100.00 | NM_053013.4 | |
| ERBB3 | C | 100.00 | 100.00 | NM_001982.4 | |
| ERCC5 | C | 100.00 | 100.00 | NM_000123.4 | |
| ERCC6 | C | 99.99 | 100.00 | NM_000124.4 | |
| EXOSC8 | C | 100.00 | 100.00 | NM_181503.3 | |
| FAM111B | C | 100.00 | 100.00 | NM_198947.4 | |
| FAM20C | C | 100.00 | 100.00 | NM_020223.4 | |
| FBN2 | C | 100.00 | 100.00 | NM_001999.4 | |
| FGFR2 | C | 100.00 | 100.00 | NM_000141.5 | |
| FHL1 | C | 100.00 | 100.00 | NM_001159699.2 | |
| FKBP14 | C | 100.00 | 100.00 | NM_017946.4 | |
| FKRP | C | 100.00 | 100.00 | NM_024301.5 | |
| FKTN | C | 100.00 | 100.00 | NM_001079802.2 | |
| FLNC | C | 100.00 | 100.00 | NM_001458.5 | |
| FOXP3 | C | 99.98 | 100.00 | NM_014009.4 | |
| GAA | C | 100.00 | 100.00 | NM_000152.5 | |
| GBA1 | |||||
| GBE1 | C | 100.00 | 100.00 | NM_000158.4 | |
| GFPT1 | C | 100.00 | 100.00 | NM_001244710.2 | |
| GLDN | C | 100.00 | 100.00 | NM_181789.4 | |
| GLE1 | C | 100.00 | 100.00 | NM_001003722.2 | |
| GNE | C | 100.00 | 100.00 | NM_005476.7 | |
| GYS1 | C | 100.00 | 100.00 | NM_002103.5 | |
| HNRNPH1 | C | 100.00 | 100.00 | NM_001257293.2 | |
| HSPG2 | C | 99.54 | 99.76 | NM_005529.7 | |
| IGHMBP2 | C | 99.99 | 100.00 | NM_002180.3 | |
| IRF6 | C | 100.00 | 100.00 | NM_006147.4 | |
| ISCU | C | 100.00 | 100.00 | NM_213595.4 | |
| ITGA7 | C | 99.98 | 100.00 | NM_002206.3 | |
| KBTBD13 | C | 100.00 | 100.00 | NM_001101362.3 | |
| KCNJ2 | C | 100.00 | 100.00 | NM_000891.3 | |
| KLHL40 | C | 100.00 | 100.00 | NM_152393.4 | |
| KLHL41 | C | 100.00 | 100.00 | NM_006063.3 | |
| KLHL9 | C | 100.00 | 100.00 | NM_018847.4 | |
| LAMA2 | C | 100.00 | 100.00 | NM_000426.4 | |
| LAMB2 | C | 100.00 | 100.00 | NM_002292.4 | |
| LAMP2 | C | 99.99 | 100.00 | NM_002294.3 | |
| LARGE1 | C | 100.00 | 100.00 | NM_133642.5 | |
| LDB3 | C | 99.92 | 100.00 | NM_007078.3 | |
| LDHA | C | 100.00 | 100.00 | NM_005566.4 | |
| LMNA | C | 99.95 | 100.00 | NM_170707.4 | |
| LMOD3 | C | 99.98 | 99.98 | NM_198271.5 | |
| LPIN1 | C | 100.00 | 100.00 | NM_001349206.2 | |
| MAGEL2 | C | 100.00 | 100.00 | NM_019066.5 | |
| MATR3 | C | 100.00 | 100.00 | NM_018834.6 | |
| MEGF10 | C | 99.96 | 100.00 | NM_001256545.2 | |
| MICU1 | C | 99.98 | 100.00 | NM_001195518.2 | |
| MPZ | C | 100.00 | 100.00 | NM_000530.8 | |
| MSTN | C | 100.00 | 100.00 | NM_005259.3 | |
| MTM1 | C | 100.00 | 100.00 | NM_000252.3 | |
| MTMR14 | C | 100.00 | 100.00 | NM_001077525.3 | |
| MUSK | C | 100.00 | 100.00 | NM_005592.4 | |
| MYBPC1 | C | 100.00 | 100.00 | NM_002465.4 | |
| MYBPC2 | C | 100.00 | 100.00 | NM_004533.4 | |
| MYF6 | C | 100.00 | 100.00 | NM_002469.3 | |
| MYH2 | C | 100.00 | 100.00 | NM_017534.6 | |
| MYH3 | C | 100.00 | 100.00 | NM_002470.4 | |
| MYH7 | C | 99.94 | 100.00 | NM_000257.4 | |
| MYH8 | C | 100.00 | 100.00 | NM_002472.3 | |
| MYOD1 | C | 100.00 | 100.00 | NM_002478.5 | |
| MYOT | C | 100.00 | 100.00 | NM_006790.2 | |
| NEB | C | 87.28 | 87.75 | NM_001164508.2 | |
| NEK9 | C | 100.00 | 100.00 | NM_033116.6 | |
| ORAI1 | C | 100.00 | 100.00 | NM_032790.3 | |
| PABPN1 | C | 100.00 | 100.00 | NM_004643.4 | |
| PDHA1 | C | 100.00 | 100.00 | NM_000284.4 | |
| PFKM | C | 100.00 | 100.00 | NM_000289.6 | |
| PGAM2 | C | 100.00 | 100.00 | NM_000290.4 | |
| PGK1 | C | 100.00 | 100.00 | NM_000291.4 | |
| PGM1 | C | 97.9 | 99.75 | NM_002633.3 | |
| PHKA1 | C | 99.97 | 99.98 | NM_002637.4 | |
| PIGH | C | 100.00 | 100.00 | NM_004569.5 | |
| PIP5K1C | C | 99.9 | 99.99 | NM_012398.3 | |
| PLEC | C | 100.00 | 100.00 | NM_201384.3 | |
| PNPLA2 | C | 100.00 | 100.00 | NM_020376.4 | |
| POMGNT1 | C | 99.89 | 99.99 | NM_017739.4 | |
| POMGNT2 | C | 100.00 | 100.00 | NM_032806.6 | |
| POMK | C | 100.00 | 100.00 | NM_032237.5 | |
| POMT1 | C | 100.00 | 100.00 | NM_001077365.2 | |
| POMT2 | C | 100.00 | 100.00 | NM_013382.7 | |
| PRPS1 | C | 100.00 | 100.00 | NM_002764.4 | |
| PYGM | C | 100.00 | 100.00 | NM_005609.4 | |
| RAC1 | C | 100.00 | 100.00 | NM_006908.5 | |
| RAPSN | C | 100.00 | 100.00 | NM_005055.5 | |
| RBCK1 | C | 100.00 | 100.00 | NM_031229.4 | |
| RHEB | C | 99.97 | 100.00 | NM_005614.4 | |
| RIPK4 | C | 100.00 | 100.00 | NM_020639.3 | |
| RRM2B | C | 100.00 | 100.00 | NM_001172477.1 | |
| RXYLT1 | C | 99.99 | 100.00 | NM_014254.3 | |
| RYR1 | C | 99.41 | 99.67 | NM_000540.3 | |
| SCN4A | C | 100.00 | 100.00 | NM_000334.4 | |
| SELENON | C | 84.45 | 85.74 | NM_020451.3 | |
| SGCA | C | 100.00 | 100.00 | NM_000023.4 | |
| SGCB | C | 99.94 | 99.97 | NM_000232.5 | |
| SGCD | C | 100.00 | 100.00 | NM_000337.6 | |
| SGCG | C | 100.00 | 100.00 | NM_000231.3 | |
| SLC52A2 | C | 100.00 | 100.00 | NM_001363118.2 | |
| SLC52A3 | C | 100.00 | 100.00 | NM_033409.4 | |
| SMCHD1 | C | 100.00 | 100.00 | NM_015295.3 | |
| SMN1 | C | 6.4 | 6.4 | NM_000344.4 | |
| SPEG | C | 100.00 | 100.00 | NM_005876.5 | |
| STIM1 | C | 100.00 | 100.00 | NM_001382567.1 | |
| STX1B | C | 99.96 | 100.00 | NM_052874.5 | |
| SYNE1 | C | 100.00 | 100.00 | NM_182961.4 | |
| TANGO2 | C | 99.96 | 100.00 | NM_152906.7 | |
| TCAP | C | 100.00 | 100.00 | NM_003673.4 | |
| TNNI2 | C | 100.00 | 100.00 | NM_003282.4 | |
| TNNT1 | C | 99.92 | 99.94 | NM_003283.6 | |
| TNNT3 | C | 100.00 | 100.00 | NM_006757.4 | |
| TNPO3 | C | 100.00 | 100.00 | NM_012470.4 | |
| TPM2 | C | 100.00 | 100.00 | NM_003289.4 | |
| TPM3 | C | 83.58 | 89.31 | NM_152263.4 | |
| TRAPPC11 | C | 100.00 | 100.00 | NM_021942.6 | |
| TRIM32 | C | 100.00 | 100.00 | NM_012210.4 | |
| TRIP4 | C | 100.00 | 100.00 | NM_016213.5 | |
| TRPV4 | C | 100.00 | 100.00 | NM_021625.5 | |
| TTC19 | C | 100.00 | 100.00 | NM_017775.4 | |
| TTN | C | 99.38 | 99.62 | NM_001267550.2 | |
| UBA1 | C | 99.99 | 100.00 | NM_003334.4 | |
| UTRN | C | 100.00 | 100.00 | NM_007124.3 | |
| VAMP2 | C | 100.00 | 100.00 | NM_014232.3 | |
| VCP | C | 99.98 | 99.98 | NM_007126.5 | |
| VIPAS39 | C | 100.00 | 100.00 | NM_001193315.2 | |
| VMA21 | C | 100.00 | 100.00 | NM_001017980.4 | |
| VPS33B | C | 100.00 | 100.00 | NM_018668.5 | |
| VRK1 | C | 100.00 | 100.00 | NM_003384.3 | |
| ZBTB33 | C | 100.00 | 100.00 | NM_001184742.2 |
| Indicatie(s) |
|---|
| Foetale akinesie |
** 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