Brain malformations NGS panel

Genes: ACTB, ACTG1, ADGRG1, AHI1, AKT1, AKT3, AMPD2, AMT, ANKLE2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, ARFGEF2, ARL13B, ARX, ASNS, ASPM, ATP6V0A2, ATR, ATRX, B3GALNT2, B4GAT1, B9D1, B9D2, BICD2, C2CD3, C5orf42, CASK, CC2D2A, CCDC22, CCND2, CDC45, CDC6, CDK5RAP2, CDK6, CDON, CDT1, CENPE, CENPF, CENPJ, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CHD7, CHMP1A, CIT, CLP1, COL18A1, COL3A1, COPB1, CREBBP, CSPP1, CTNNA2, CUL4B, DAG1, DCX, DDX3X, DHCR24, DHCR7, DISP1, DLAT, DLD, DLL1, DNA2, DYNC1H1, DYRK1A, EFTUD2, EML1, EOMES, EP300, ERCC6, ERMARD, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, EZH2, FAT4, FBXO11, FGF8, FGFR1, FIG4, FKRP, FKTN, FLNA, FOXP2, GCDH, GCSH, GLDC, GMNN, GMPPB, GPSM2, GRIN1, GRIN2B, GSX2, HDAC8, IER3IP1, IFT172, INPP5E, ISPD, KIF11, KIF14, KIF1BP, KIF2A, KIF2A, KIF5C, KIF5C, KIF7, KIFBP, KMT2A, KMT2D, KNL1, LAGE3, LAMA2, LAMB1, LAMC3, LARGE1, LGI1, MCM5, MCPH1, MECP2, MFSD2A, MKS1, MTOR, NACC1, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NEDD4L, NHEJ1, NIN, NPHP1*, NSMCE2, NUP107, NUP133, NUP37, OCLN, OFD1, OPHN1, ORC1, ORC4, ORC6, OSGEP, PAFAH1B1, PCDH12, PCNT, PDE6D, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PHC1, PHGDH, PI4KA, PIEZO2, PIK3CA, PIK3R2, PLK4, PMM2, PNKP, POC1B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP1R12A, PQBP1, PSAT1, PSPH, PTEN, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RELN, RPGRIP1L, RTTN, RXYLT1, SASS6, SEC23B, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SLC25A46, SLC9A6, SMC1A, SMC3, SNAP29, SRD5A3, SRPX2, STAG2, STAMBP, STIL, STIL, TBC1D20, TCF4, TCTN1, TCTN2, TCTN3, TGIF1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM5, TMEM67, TMX2, TP53RK, TPRKB, TRAIP, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, VLDLR, VRK1, WASHC5, WDFY3, WDR4, WDR62, WDR73, ZEB2, ZIC2, ZNF335, ZNF423

* – 250kb deletion in the heterozygous state is not detectable with the test

List of diseases covered by the panel


Lab method: NGS panel NGS panel with CNV

TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form