100% coverage of exons, flanking intron-exon boundaries, and other regions
High uniformity and on-target reads
Up to 384 unique barcodes allowing for high multiplexing capabilities
Low input requirements for gDNA from fresh or frozen tissues
Simple workflow and < 3 hours hands-on time
Compatible with Illumina and Ion torrent platform
Available community amplicon panel
Amplicon Panel | Gene Covered |
Autism Spectrum Disorders | PDE8B, EN2, NLGN4X, CDKL5, NLGN3, MECP2, RPL10 |
BRCA1/2 XP | BRCA1, BRCA2 |
BRCA1/2 Plus-1 | BRCA1, BRCA2, PALB2, CHEK2 |
CEBPA | CEBPA |
Colorectal Cancer -1 | MLH1, MSH2 |
Colorectal Cancer-2 | MSH6, PMS2 |
Congenital Adrenal Hyperplasia | CYP21A2 |
Congenital Hyperinsulism | ABCC8, GLUD1, KCNJ11, GCK, HADH, HNF4A, INS, INSR, PDX1, SLC16A1 & UCP2 |
CVD | 22 hot spots for cardiovascular disease: MTHFR, F5, AGT, APOB, AGTR1, FGB, F13A1, LTA, SERPINE1, NOS3, JAK2, F2, ITGB3, APOE, PROCR, CBS |
Duchenne Muscular Dystrophy | DMD |
Epilepsy-2 | SCN2A, SCN9A |
Female Infertility | FSHB, FSHR, LHB, LHCGR |
HBOC-1 | RAD51D, RAD51C, BRIP1 |
HBOC-2 | PALB2, BARD1, TP53 |
Lysosomal Storage Diseases | SUMF1, GLB1, IDUA, ARSB, GUSB, SMPD1, GALC, GALNS, GAA, GLA, IDS |
Male Infertility | AR, CATSPER1, CFTR, FSHR, LHCGR |
Marfan Syndrome | FBN1 |
Mediterranean Fever | MEFV |
MODY-1 | HNF1A, GCK |
MODY-2 | HNF1B, HNF4A |
MODY-3 | PDX1, NEUROD1, KLF11, CEL |
MODY-4 | PAX4, INS, BLK |
MODY-5 | GCK, HNF1A, HNF1B, HNF4A |
Myeloid | Selected CDS from 21 genes |
Nephrotic Syndrome-1 | NPSH1, NPSH2, WT1 |
Nephrotic Syndrome-2 | ARHGDIA, DGKE, LAMB2, PLCE1 |
Neurofibromatosis | NF1, NF2 |
Neuronal Ceroid Lipofuscinoses | CLN3, CLN5, CLN6, CLN8, CTSD, MFSD8, PPT1, TPP1 |
Obesity-1 | LEP, LEPR, POMC, MC4R |
Obesity-2 | KSR2, SH2B1, SIM1 |
Periodic Fever-1 | TNFRSF1A, NLRP3, MVK |
Periodic Fever-2 | ELANE, LPIN2, PSTPIP1 |
Phenylketonuria | PAH |
TP53 | TP53 |