ABCA4 Retinal Degeneration Autosomal Recessive and Autosomal DominantPlease submit parental samples (no charge) in addition to the patient's sample; requisition needed for each. ABCA4 & ELOVL4 (Leu263 del5tttCTTAA) First Tier Testing$463 12-14 weeks Allele-Specific Testing Followed by Conventional Sequencing 81479 Second Allele Testing$1,611 14-16 weeks Conventional Sequencing 81479AchromatopsiaAutosomal RecessiveCNGA3(exon 8) & CNGB3(Exon 10)First Tier Testing$2338-10 weeksConventional Sequencing81479Autosomal Recessive & X-linkedCNGA3, CNGB3, CNNM4, GNAT2, KCNV2, NBAS, OPN1LW, PDE6C, PDE6H & RPGRExome Testing$220014-16 weeksConventional Sequencing & Next Generation Sequencing81479Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) Autosomal Dominant CAPN5 $373 12-14 weeks Conventional Sequencing 81479Bardet-Biedl SyndromeAutosomal RecessiveBBS1 (Met390Arg) BBS10 (Leu90 ins1T)First Tier Testing$1408-10 weeksAllele-Specific Testing81479ARL6, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CEP290, INPP5E, LZTFL1, MKS1, MKKS, SDCCAG8, TRIM32 & TTC8Exome Testing$220014-16 weeksAllele-Specific Testing Followed by Conventional Sequencing and Next Generation Sequencing81479Best Disease Autosomal Dominant BEST1 (Full coding region) $373 12-14 weeks Conventional Sequencing 81406Blue Cone Monochromacy X-Linked OPNL1W - Locus Control Region $429 6-8 weeks Deletion Detection (Males Only) 81479Choroideremia X-Linked CHM (Full coding region) $485 14-16 weeks Conventional Sequencing 81479Cone-Rod DystrophyAutosomal DominantCRX (full coding region), GUCA1A(Leu151Phe) & GUCY2D (Exon 13)$2618-10 weeksConventional Sequencing81404, 81479Congenital Stationary Night BlindnessAutosomal Dominant, Autosomal Recessive & X-LinkedCACNA1F, GRM6, PDE6B & TRPM1First Tier Testing$2338-10 weeksConventional Sequencing81479CABP4, CACNA1F, GNAT1, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1Exome Testing$220014-16 weeksConventional Sequencing & Next Generation Sequencing81479Corneal Dystrophy-Stromal Autosomal Dominant TGFBI (Exons 4 & 11-14) $205 12-14 weeks Conventional Sequencing 81479EnhancedS-Cone Syndrome Autosomal RecessivePlease submit parental samples (no charge) in addition to the patient's sample; requisition needed for each. NR2E3 (Exons 2-8) $314 14-16 weeks Conventional Sequencing 81479Jewish Retinal Degeneration Panel - Leber Congenital Amaurosis, Retinitis Pigmentosa and Usher Syndrome Autosomal Recessive DHDDS (Lys42Glu), LCA5 (Gln279Stop), MAK (Lys429 Alu Insertion), PCDH15 (Arg245Stop), USH3A (Asn48Lys) $205 4 weeks Conventional Sequencing 81400, 81479Juvenile Open Angle Glaucoma Autosomal Dominant MYOC (full coding region) $205 12-14 weeks Conventional Sequencing 81479Juvenile X-Linked Retinoschisis X-Linked RS1 (full coding region) $233 10-12 weeks Conventional Sequencing 81479Leber Congenital AmaurosisAutosomal Recessive Please submit parental samples (no charge) in addition to the patient's sample; requisition needed for each.AIPL1, CEP290, CRB1, CRX, GUCY2D, IQCB1, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65 (entire coding region), RPGRIP1, SPATA7, TULP1First Tier Testing$95714-16 weeksAllele-Specific Testing Followed by Conventional Sequencing81404, 81406, 81408, 81479Exome Testing$28006-8 monthsAllele-Specific Testing Followed by Conventional Sequencing and Next Generation Sequencing81479Leber Hereditary Optic Neuropathy Mitochondrial 3460, 11778, 14484 $140 6-8 weeks Allele-Specific Testing 81401Malattia Leventinese Autosomal Dominant EFEMP1 (Arg345Trp mutation) $140 6-8 weeks Allele-Specific Testing 81479Norrie Disease X-Linked NDP (full coding region) $121 8-10 weeks Conventional Sequencing 81404North Carolina Macular Dystrophy Autosomal Dominant PRDM13, IRX1 $243 6-8 weeks Allele-Specific Testing and Conventional Sequencing 81479Pattern Dystrophy Autosomal Dominant RDS (full coding region) $149 8-10 weeks Conventional Sequencing 81404Primary Open Angle Glaucoma Autosomal Dominant MYOC (full coding region) $205 12-14 weeks Conventional Sequencing 81479Retinitis Pigmentosa Autosomal Dominant C1QTNF5, IMPDH1, MAK, NR2E3, PRPF3, PRPF31, PRPF8, RDH12, RDS, RHO, RP1, RP9, SNRNP200, TOPORS $320 8-10 weeks Allele-Specific Testing Followed by Conventional Sequencing 81404, 81479Retinitis Pigmentosa Autosomal Recessive ABCA4, CC2D2A, CERKL, CLRN1, CNGA1, CRB1, DHDDS, EYS, FAM161A, FLVCR1, IDH3B, IMPG2, LRAT, MAK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PROM1, RBP3, RDH12, RGR, RLBP1, RPE65, SAG, TTPA, TULP1, USH2A, ZNF513 $833 12 14 weeks Allele-Specific Testing Followed by Conventional Sequencing 81408, 81479Retinitis Pigmentosa X-Linked RP2, RPGR $865 12-14 weeks Conventional Sequencing 81479Sorsby Dystrophy Autosomal Dominant TIMP3 (Exons 1 & 5) $121 8-10 weeks Conventional Sequencing 81479Stargardt like Macular Dystrophy Autosomal Dominant ELOVL4 (Leu263 del5tttCTTAA) $140 6-8 weeks Allele-Specific Testing 81479Stargardt Disease Autosomal Recessive and Autosomal DominantPlease submit parental samples (no charge) in addition to the patient's sample; requisition needed for each. ABCA4 & ELOVL4 (Leu263 del5tttCTTAA) First Tier Testing$463 12-14 weeks Allele-Specific Testing Followed by Conventional Sequencing 81408, 81479 Second Allele Testing$1,611 14-16 weeks Conventional Sequencing 81408, 81479Usher SyndromeAutosomal RecessiveCDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G & USH2AFirst Tier Testing$5758-10 weeksAllele-Specific Testing Followed by Conventional Sequencing81400, 81407, 81408, 81479Second Allele Testing$575-$1,626 10-12 weeksConventional Sequencing81400, 81407, 81408, 81479ABHD12, CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, USH1C, USH1G & USH2AExome Testing$220014-16 weeksAllele-Specific Testing Followed by Conventional Sequencing and Next Generation Sequencing81400, 81407, 81408, 81479X-Linked Familial Exudative Vitreoretinopathy (XL-FEVR) X-Linked NDP (full coding region) $121 8-12 weeks Conventional Sequencing 81479

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