Test Code: PNL233

Retinal dystrophies, nonsyndromic or paucisyndromic, extended (156 Genes)

Multigene

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.

Sample Type

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

Turnaround Time

3 weeks days

Courier Requirements

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

Pricing

Genes Analyzed

149 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

Methodology

Next Generation Sequencing

Test Code PNL233
Category Multigene
Sample 3 ml peripheral blood in EDTA (purple/pink top) tube
TAT 3 weeks days
Courier Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Genes 149 genes analyzed

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