Test Code: PNL233

Genes: ABCA4, ADAM9, AGBL5, AHR, ARHGEF18, AIPL1, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, C2ORF71, CFAP418(C8orf37), C1QTNF5, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CDH3, CDHR1, CEP290, CERKL, CFB, CFH, CHM, CLRN1, CNGA1, CNGB1, CNGB3, CNNM4, COL11A1, COL4A1, CRB1, CRX, CTNNA1, CYP4V2, DHDDS, DHS6S1, DHX38, DRAM2, EFEMP1, ELOVL4, EYS, FAM161A, FSCN2, GDF6, GUCA1A, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IGFBP7, IMPDH1, IMPG1, IMPG2, IFT140, IFT172, IFT43, IQCB1, ITM2B, KCNV2, KIAA1549, KIZ, KCNJ13, KLHL7, LCA5, LRAT, MAPKAPK3(MAPKAP3), MAK, MERTK, MIR204, MVK, NEK2, NMNAT1, NR2E3, NRL, OAT, OFD1, OPN1LW, OPN1MW, OTX2, PCARE, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PGK1, PITPNM3, PLA2G5, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, PIKFYVE, RBP3, RBP4, RDH12, REEP6, RAB28, RAX2, RCBTB1, RD3, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RS1, SAG, SEMA4A, SIX6, SLC7A14, SNRNP200, SPATA7, SSBP1, TGFBI, TIMP3, TLCD3B, TOPORS, TTC8, TTLL5, TUB, TULP1, UNC119, USH2A, WFS1, ZNF408, ZNF513 (156 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Next Generation Sequencing

Turnaround Time: 3 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1800

Description:
This extended genetic panel for nonsyndromic and paucisyndromic retinal dystrophies includes 156 genes known to be associated with inherited retinal disorders. It is designed to capture a wide spectrum of pathogenic variants across autosomal dominant, autosomal recessive, and X-linked inheritance patterns. The panel enables comprehensive molecular diagnosis of conditions such as retinitis pigmentosa, cone-rod dystrophy, Leber congenital amaurosis, and other progressive retinal degenerations. By covering both common and rare IRD-associated genes, the panel supports personalized care, facilitates genetic counseling, and informs potential eligibility for emerging gene-targeted therapies.