We have updated and increased the genes in a number of our next-generation sequencing panels.
Our Cerebellar/Pontocerebellar Hypoplasia Sequencing Panel now includes sequencing of 8 genes: CASK, OPHN1, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1
Our Microcephaly Tier 2 Sequencing Panel now includes sequencing of 14 genes: ARFGEF2, CASC5, CDK5RAP2, CENPJ, CEP63, CEP135, CEP152, MCPH1, MED17, NDE1, PNKP, SLC25A19, STIL, WDR62
Our Early Infantile Epileptic Encephalopathy Panel now includes sequencing of 15 genes: ARHGEF9, ARX, CDKL5, GRIN2A, MAGI2, PCDH19, PNKP,SCN1A, SLC2A1, SLC25A22, STXBP1, SPTAN1, KCNQ2, PLCB1, SCN2A and deletion/duplication analysis of 12 genes: ARHGEF9, ARX, CDKL5, GRIN2A, MAGI2, PCDH19, PNKP,SCN1A, SLC2A1, SLC25A22, STXBP1, SPTAN1
Our Seckel Syndrome Sequencing Panel now includes sequencing of 6 genes: ATR, CENPJ, CEP63, CEP152, PCNT, RBBP8
Our Comprehensive Primordial Dwarfism Sequencing Panel now includes sequencing of 12 genes: ATR, CDT1, CDC6, CENPJ, CEP63, CEP152, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC
Our Comprehensive Non-Syndrome Intellectual Disability Panel now includes sequencing of 95 genes
Check out these updated panels as well as our other existing next generation sequencing panels!