Microcephaly NGS panel

Genes
(full
coding
region):
ANKLE2, AP4M1, ASNS, ASPM, ATR, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHD7, CIT, COPB1, CREBBP, CTNNA2, DHCR7, DHTKD1, DNA2, DYRK1A, EFTUD2, EP300, ERCC6, FBXO11, GMNN, GSX2, HDAC8, IER3IP1, KIF11, KIF14, KIF2A, KIF5C, KIFBP, KMT2A, KNL1, LAGE3, MCM5, MCPH1, MFSD2A, NACC1, NCAPD2, NCAPD3, NCAPH, NDE1, NHEJ1, NIN, NSMCE2, NUP107, NUP133, NUP37, ORC1, ORC4, ORC6, OSGEP, PAFAH1B1, PCDH12, PCNT, PHC1, PHGDH, PLK4, PNKP, POMT1, PSAT1, PSPH, RBBP8, RTTN, SASS6, SLC25A19, SLC9A6, STAMBP, STIL, TP53RK, TPRKB, TRAIP, TRAPPC9, TRMT10A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, WDFY3, WDR4, WDR62, WDR73, ZEB2, ZNF335

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

1 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