Autism Spectrum Disorders NGS panel

Genes
(full coding
region):
ADNP, ADSL, ANKRD11, ARX, AVPR1A, BCL11A, BRAF, CACNA1C, CC2D1A, CDKL5, CHD2, CHD7, CNOT3, CNTN6, CNTNAP2, COL4A3BP, C12ORF4, CREBBP, CSNK2A1, DHCR7, EHMT1, EN2, FBXO11, FOXG1, FOXP1, FOXP2, GABRB3, HDAC8, HOXA1, HPRT1, KMT5B, MAGEL2, MBOAT7, MECP2, MED12, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OXTR, PCDH19, PDE8B, POGZ, PTCHD1, PTEN, PTPN11, PQBP1, RAD21, RAI1, RELN, RPL10, SCN1A, SCN2A, SETD2, SHANK2, SHANK3, SLC6A4, SLC6A8, SLC9A9, SMC3, SMC1A, SNAP25, TBL1XR1, TBR1, TCF4, TCF20, TRIP12, TSC1, TSC2, UBE3A, VPS13B, WASF1, ZEB2

List of diseases covered by the panel


Non-coding variants: List of non-coding variants covered by the panel

Lab method: NGS panel with CNV analysis

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