Next Generation Sequencing (NGS) Tests
Next Generation Service Arrives at Casey
We are delighted to announce we have successfully integrated Next Generation Sequencing (NGS) with our PCR based platform. By doing so, we have expanded our previous panels and we have lowered the cost for the testing of each genetic condition. At Casey Molecular Diagnostic Laboratory, it is our goal to offer the very best service with the most reasonable price to our clients. By combining the benefits of NGS with our PCR based platform, we not only can confirm previously detected mutations, but we are also able to detect mutations that had not been detected with previous testing (because a different set of genes were sequenced).
We are extremely pleased with this new paradigm for detecting mutations. It will allow us to provide better testing at a lower price. We are particularly happy that this will assist us with our goal of finding a mutation for every family with a genetic condition.
John (Pei-Wen) Chiang, PhD, FACMG
Director, Casey Molecular Diagnostic Laboratory
NGS Test and Price List
|Achromatopsia, 5 genes (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H)||$950|
|Bardet-Biedl Syndrome, 16 genes (BBS1 - BBS16)||$1,500|
|Cone-Rod Dystrophy, 26 genes (ABCA4, ADAM9, AIPL1, BEST1, c8ORF37, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, CRX, GUCA1A, GUCY2D, KCNV2, PDE6C, PITPNM3, PROM1, PRPH2/RDS, RAX2, RDH5, RIMS1, RPGRIP1, SEMA4A,UNC119)||
|Congenital Stationary Night Blindness (CSNB), 14 genes (CABP4, CACNA1F, GNAT1, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1)||$950|
|Cockayne Syndrome Panel, 2 genes (ERCC6, ERCC8)||$500|
|Hereditary hemorrhagic telangiectasia (HHT) panel, 3 genes (ENG, ACVRL1, SMAD4)||$650|
|Hermansky-Pudlak Syndrome and Oculocutaneous Albinism, 15 genes (HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8, HPS9, OCA1, OCA2, OCA3, OCA4, OA1, LYST)||$1,500|
|Leber Congenital Amaurosis (LCA), 19 genes (AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1)||$1,800|
|Neurofibromatosis panel (NGS), 3 genes, KIT, NF1, SPRED1||$950|
|Osteogenesis imperfecta panel, 2 genes (COL1A1, COL1A2)||$950|
|Neuronal Ceroid-Lipofuscinosis (NCL) panel, 9 genes (PPT1/CLN1, TPP1/CLN2, CLN3, DNAJC5/CLN4, CLN5, CLN6, MFSD8, CLN8, CTSD/CLN10)||$950|
|Tuberous Sclerosis (TSC Panel), 2 genes (TSC1, TSC2)||$650|
|Usher Syndrome,13 genes (ABHD12, CDH23, CLRN1, DFNB31, GPR98, HARS/USH3B, MYO7A, PCDH15, PDZD7, USH1C, USH1G USH1J/CIB2, USH2A)||$1,950|
|Retinitis Pigmentosa (RP), 59 genes (ABCA4, ASCC3L1(SNRNP200), BEST1, C1ATNF5, C2ORF71, C8ORF37, CA4, CERKL, CHM, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FSCN2, GUCA1B, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, SAG, SEMA4A, SPATA7, TTC8, TOPORS, TULP1, USH2A, ZNF513)||$2,500|
|Rubinstein-Taybi Syndrome panel, 3 genes CREBBP, EP300, SRCAP||$950|
|Septo-optic dysplasia (SOD), 4 genes (HESX1, OTX2, SOX2, PAX6)||$650|
|Senior-Loken Syndrome, 4 genes (CEP290, IQCB1, NPHP1, NPHP4)||$950|
|Stargardt panel, 4 genes (ABCA4, ELOVL4, PROM1, RDS||$650|
|Waardenburg Syndrome panel, 6 genes (EDN3, EDNRB, MITF, PAX3, RET, SNAI2, SOX10)||$1,500|
Sample list of our new NGS based panels. New panels will be added continuously. We especially welcome suggestions.
This list is derived from RetNet.
Prices are subject to change.