Syndromal diseases - comprehensive panel
Genes Tested 641 Genes
- A2ML1
- ABCC6
- ABCC8
- ABCC9
- ABCD1
- ABCD4
- ACAD9
- ACAN
- ACAT1
- ACP5
- ACSL4
- ACTB
- ACTG1
- AFF2
- AGA
- AGL
- AHCY
- AHI1
- AIFM1
- AKT1
- AKT3
- ALDH5A1
- ALDH7A1
- ALMS1
- ALPL
- ALX1
- ALX3
- ALX4
- AMMECR1
- AMT
- ANK3
- ANKRD11
- AP1S1
- AP1S2
- ARCN1
- ARG1
- ARHGAP31
- ARHGEF6
- ARHGEF9
- ARID1A
- ARID1B
- ARID2
- ARSA
- ARX
- ASL
- ASPA
- ASPM
- ASS1
- ASXL1
- ASXL2
- ASXL3
- ATP6AP2
- ATP7A
- ATP7B
- ATRX
- B3GAT3
- B4GALT7
- B9D1
- B9D2
- BBS1
- BBS10
- BBS12
- BBS2
- BBS4
- BBS7
- BBS9
- BCKDHA
- BCKDHB
- BCKDK
- BCL11A
- BCOR
- BLM
- BMP1
- BMP2
- BRAF
- BRCA2
- BRIP1
- BRWD3
- BTD
- C12orf57
- C2CD3
- CA5A
- CACNG2
- CAD
- CAMK2A
- CAMK2B
- CASK
- CBL
- CBS
- CC2D1A
- CC2D2A
- CCDC22
- CCDC8
- CCND2
- CCNQ
- CDC45
- CDH15
- CDK5RAP2
- CDKL5
- CDKN1C
- CEP290
- CHD7
- CHD8
- CLCN4
- CLIC2
- CNTNAP2
- COL10A1
- COL1A1
- COL1A2
- COL2A1
- COL9A1
- COL9A2
- COL9A3
- COMP
- COQ5
- COQ8A
- CP
- CPLANE1
- CPS1
- CRBN
- CREBBP
- CRIPT
- CRTAP
- CSPP1
- CTC1
- CTCF
- CTNNB1
- CUL4B
- CUL7
- CYP26B1
- CYP27A1
- DBT
- DCHS1
- DCX
- DDC
- DDR2
- DDX3X
- DHCR7
- DHFR
- DHODH
- DIS3L2
- DKC1
- DLAT
- DLD
- DLG3
- DLL4
- DMD
- DNAJC12
- DNMT3A
- DOCK6
- DONSON
- DPH1
- DVL1
- DYRK1A
- ECHS1
- EDN3
- EDNRA
- EDNRB
- EFNB1
- EFTUD2
- EHMT1
- EIF2B5
- EIF2S3
- EMD
- EOGT
- EP300
- EPB41L1
- EPG5
- EPHB4
- ERCC4
- ERCC6
- ERCC8
- ERF
- ESCO2
- ETFA
- ETFB
- ETFDH
- ETHE1
- EVC
- EVC2
- EXOSC2
- EYA1
- EZH2
- FANCA
- FANCB
- FANCC
- FANCD2
- FANCE
- FANCF
- FANCG
- FANCI
- FANCL
- FARSB
- FAT4
- FGD1
- FGFR1
- FGFR2
- FGFR3
- FHL1
- FKBP10
- FLNA
- FLNB
- FLVCR2
- FMR1
- FOLR1
- FOXG1
- FOXP1
- FOXP2
- FTSJ1
- FUCA1
- G6PC1
- GAA
- GALNS
- GAMT
- GATAD2B
- GATM
- GBA1
- GBE1
- GCDH
- GCH1
- GDI1
- GFAP
- GH1
- GHR
- GHRHR
- GK
- GLB1
- GLDC
- GLI3
- GLUL
- GNA11
- GNAQ
- GNAS
- GNPTAB
- GNPTG
- GNS
- GOT2
- GPC3
- GPSM2
- GRHL2
- GRIA3
- GRIK2
- GRIN1
- GRIN2A
- GRIN2B
- GRIN2D
- GSC
- GUSB
- GZF1
- HCCS
- HCFC1
- HDAC8
- HEPACAM
- HERC2
- HEXA
- HEXB
- HGSNAT
- HIBCH
- HLCS
- HMGA2
- HMGCL
- HMGCS2
- HOXA1
- HOXD13
- HPRT1
- HRAS
- HSD17B10
- HUWE1
- IARS1
- IDH1
- IDH2
- IDS
- IDUA
- IFITM5
- IFT122
- IGBP1
- IGF1
- IGF1R
- IGF2
- IGFALS
- IKBKG
- IL11RA
- IL1RAPL1
- INPP5E
- INSR
- IQCB1
- IQSEC2
- IRF6
- IVD
- JAG1
- KANSL1
- KAT6A
- KAT6B
- KCNJ10
- KCNJ11
- KDM5C
- KDM6A
- KIAA0586
- KIF1A
- KIF7
- KMT2A
- KMT2D
- KPTN
- KRAS
- L1CAM
- LAMP2
- LARS1
- LAS1L
- LEP
- LEPR
- LIG4
- LINS1
- LMBR1
- LMBRD1
- LRP5
- LTBP3
- LZTR1
- MAGEL2
- MAGT1
- MAN1B1
- MAN2B1
- MANBA
- MAOA
- MAP2K1
- MAP2K2
- MARS1
- MATN3
- MBD5
- MBTPS2
- MC3R
- MC4R
- MCOLN1
- MCPH1
- MECP2
- MED12
- MED13L
- MED23
- MEF2C
- MFSD8
- MID1
- MITF
- MKKS
- MKS1
- MLC1
- MLH1
- MMAA
- MMAB
- MMACHC
- MMADHC
- MMUT
- MOCS1
- MRAS
- MSH2
- MSH6
- MSX2
- MT-CO1
- MT-CO2
- MT-CO3
- MT-ND1
- MT-ND4
- MT-ND5
- MT-ND6
- MT-TF
- MT-TH
- MT-TL1
- MT-TQ
- MT-TS1
- MT-TS2
- MT-TW
- MTHFR
- MTHFS
- MTM1
- MTOR
- MTR
- MTRR
- MYH7
- MYT1
- NAA10
- NAGLU
- NAGS
- NAXE
- NBAS
- NBN
- NDP
- NDST1
- NDUFA1
- NEXMIF
- NF1
- NFE2L2
- NFIX
- NHS
- NIPBL
- NLGN3
- NLGN4X
- NOG
- NOTCH2
- NPC1
- NPC2
- NPHP1
- NPR2
- NRAS
- NRXN1
- NSD1
- NSDHL
- NSUN2
- NTRK2
- OBSL1
- OCRL
- OFD1
- OPHN1
- OTC
- P3H1
- PACS1
- PAH
- PAK3
- PALB2
- PAPPA2
- PAX3
- PCCA
- PCCB
- PCDH19
- PDHA1
- PDHB
- PDHX
- PDP1
- PEX1
- PEX10
- PEX12
- PEX2
- PEX26
- PEX6
- PGAP1
- PGK1
- PHF6
- PHF8
- PHGDH
- PHKA1
- PHKA2
- PHKB
- PHKG2
- PIGA
- PIGM
- PIGO
- PIK3CA
- PIK3R1
- PIK3R2
- PITX1
- PLAG1
- PLOD2
- PLP1
- PLPBP
- PLS3
- PMM2
- PMS2
- PNPO
- POC1A
- POGZ
- POLR1A
- POLR1B
- POLR1C
- POLR1D
- POLR3GL
- POMC
- POR
- PORCN
- PPIB
- PPP1CB
- PPP1R15B
- PQBP1
- PRPS1
- PSAT1
- PSPH
- PTCH1
- PTCHD1
- PTEN
- PTH1R
- PTPN11
- PTS
- PUS7
- PYGL
- PYGM
- QDPR
- RAB23
- RAB39B
- RAB40AL
- RAD21
- RAF1
- RAI1
- RASA1
- RASA2
- RBM10
- RBM8A
- RBPJ
- RECQL4
- RET
- RIT1
- RNF135
- ROR2
- RPL10
- RPS6KA3
- RRAS
- RRAS2
- RTTN
- RUNX2
- SALL1
- SALL4
- SAMD9
- SARS1
- SCARF2
- SCUBE3
- SDCCAG8
- SERPINF1
- SERPINH1
- SETBP1
- SETD2
- SETD5
- SF3B4
- SGSH
- SHANK3
- SHOC2
- SHOX
- SHROOM4
- SIM1
- SIX1
- SIX5
- SLC10A7
- SLC16A2
- SLC18A2
- SLC19A3
- SLC25A12
- SLC25A13
- SLC25A15
- SLC25A19
- SLC26A2
- SLC2A1
- SLC35A2
- SLC35C1
- SLC37A4
- SLC39A8
- SLC46A1
- SLC5A6
- SLC6A8
- SLC9A6
- SLX4
- SMAD6
- SMARCA2
- SMARCA4
- SMARCB1
- SMARCE1
- SMC1A
- SMC3
- SMO
- SMPD1
- SMS
- SNAI2
- SNX14
- SOS1
- SOS2
- SOX10
- SOX3
- SOX9
- SP7
- SPECC1L
- SPR
- SPRED1
- SPRED2
- SRCAP
- SRPX2
- ST3GAL3
- STAG1
- STAG2
- STAT5B
- STRADA
- STXBP1
- SUMF1
- SYN1
- SYNGAP1
- SYP
- SZT2
- TAF2
- TAT
- TBC1D7
- TBX3
- TBX5
- TCF12
- TCF4
- TCN2
- TCOF1
- TCTN2
- TCTN3
- TECR
- TFAP2A
- TH
- THOC2
- TIMM8A
- TKT
- TMCO1
- TMEM138
- TMEM216
- TMEM231
- TMEM38B
- TMEM67
- TMLHE
- TOP3A
- TP63
- TPK1
- TPP1
- TRAPPC2
- TRAPPC9
- TRIM37
- TRMT10A
- TRPS1
- TSC1
- TSC2
- TSPAN7
- TTC21B
- TTC8
- TUSC3
- TWIST1
- TXNL4A
- UBE2A
- UBE2T
- UBE3A
- UBR1
- UCP3
- UPF3B
- VPS13B
- WAC
- WASHC5
- WDR19
- WDR45
- WDR62
- WNT1
- WNT5A
- XRCC2
- ZDHHC15
- ZDHHC9
- ZEB2
- ZNF408
- ZNF711
- ZNF81
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
161.06 |
Genes Tested |
641 Genes |
Method(s) |
Next Generation Sequencing (NGS) |
Sample Requirements |
2-4 ml EDTA blood Please click here for more detailed information |
Turnaround Time |
3-6 weeks |