Retinal dystrofi

Analyse
Metode Vejledende svartid​ Materiale og forsendelse​
​Mutationsscreening – genpanel
​Next Generation
Sequencing (NGS)

Retinal dystrofi (RD) genpanel*:
Se liste over generne herunder.
​3 - 4 måneder
​6 ml EDTA blood
(mindre børn 1-3 ml)
eller ekstraheret DNA

Sendes med almindelig post til
Medicinsk Genetisk Laboratorium,
Kennedy Centret,
Gl. Landevej 7,
2600 Glostrup,
Danmark
​Kontakt
​Medicinsk Genetisk Laboratorium, Kennedy Centret
rh-kennedy-medgenlab@regionh.dk
​Rekvisition
Rekvisition til postnatal diagnostik - Kennedy Centret
(pdf, åbner i nyt vindue)

*) Akkrediteret af DANAK (Den Danske Akkrediteringsfond) efter DS/EN ISO 15189:2013


Retinal dystrofi genpanel*:
ABCA4 inkl intron varianter: c.5196+1216C>A, c5196+1159G>A, c.5196+1137G>A, c.5196+1136C>A, c.5196+1056A>G, c.4539+2001G>A, c.4539+2028C>T, ADAM9, ADIPOR1, AGBL5, AIPL1, ALMS1, ARL2BP, ARL2BP, ARL6, ATF6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21ORF2, C2ORF71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CDH23, CDH3, CDHR1, CEP290 inkl. intron variant c.2991+1655A>G, CERKL, CHM, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CRB1, CRX, CTNNA1, CYP4V2, DFNB31, DHDDS, ELOVL4, EYS, FAM161A, FLVCR1, FRMD7, GNAT1, GNAT2, GNB3, GPR125, GPR179, GPR98, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HGSNAT, IDH3B, IFT172, IFT27, IMPDH1, IMPG2, INPP5E, IQCB1, KCNJ13, KCNV2, KIZ, KLHL7, LCA5, LRAT, LRIT3, LZTFL1, MAK, MERTK, MKKS, MKS1, MVK, MYO7A, NMNAT1, NR2E3, NRL, NYX, OFD1, OTX2, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PITPNM3, POC1B, POMGNT1, PRCD, PRDM13, PROM1 inkl intron variant c.2077-521A>G, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RAB28, RAX2, RBP3, RBP4, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC7A14, SNRNP200, SPATA7, TEAD1, TIMP3, TOPORS, TRIM32, TRNT1, TRPM1, TTC8, TTLL5, TULP1, USH1C, USH1G, USH2A inkl. intron variant c.7595-2144A>G, ZNF408, ZNF513


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