Ophthalmology

NGS, with CNVs analysis

34900

–

41

AGK, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FAM126A, FOXE3, FYCO1, GALK1, GBA2, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, MIR184, NHS, P3H2, PAX6, PITX3, PXDN, SIL1, SLC16A12, SLC33A1, TDRD7, VIM

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Neurology

NGS, with CNVs analysis

34900

–

16

DGUOK, DNA2, MGME1, MFN2, MPV17, OPA1, POLG, POLG2, RNASEH1, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TWNK, TYMP

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Ophthalmology

NGS, with CNVs analysis

34900

–

160

ABCA4, ABHD12, ADAM9, ADGRA3, AGBL5, AIPL1, ARL2BP, ARL3, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21orf2, C2orf71, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDHR1, CEP290, CEP78, CERKL, CLN3, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, CRB1, CRX, CYP4V2, DHDDS, DHX38, DTHD1, EMC1, EYS, FAM161A, FLVCR1, FSCN2, GDF6, GNAT1, GNPTG, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IFT140, IFT172, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, KCNJ13, KCNV2, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MKKS, MVK, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OFD1, OPN1LW, OTX2, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, POC1B, POMGNT1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RAB28, RAX2, RBP3, RBP4, RD3, RDH11, RDH12, RDH5, RGR, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TOPORS, TRIM32, TRNT1, TRPM1, TTC8, TTLL5, TTPA, TUB, TULP1, UNC119, USH1C, USH2A, WDR19, WFS1, WHRN, ZNF408, ZNF513

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Otorhinolaryngology

Ophthalmology, Endocrinology, Pediatrics

NGS, with CNVs analysis

34900

–

14

ADGRV1, ALMS1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, TIMM8A, USH2A, USH1C, USH1G, WHRN

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

Otorhinolaryngology

Ophthalmology

NGS, with CNVs analysis

34900

–

13

ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, TIMM8A, USH2A, USH1C, USH1G, WHRN

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.