Hørenedsættelse, non-syndromisk og syndromisk

Analyse
Metode​Vejledende svartid​
Materiale og forsendelse​
Mutationsscreening – genpanel

Next Generation Sequencing (NGS)

Hørenedsættelse, non-syndromisk og syndromisk, 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

Rekvisition​

Hørenedsættelse, non-syndromisk og syndromisk, genpanel:

ABHD12, ACTG1, ADCY1, AIFM1, ATP1A2, ATP1A3, BDP1, CABP2, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL2A1, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COMP, CRYM, DCDC2, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DMXL2, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FAM65B, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, ADGRV1/GPR98, GPRASP2, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS, HARS2, HGF, HOMER2, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MATN3, MCM2, MFN2, miR-96, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, OTOR, P2RX2, PAX3, PCDH15, PDZD7, PNPT1, POLR1D, POLR1C, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, ROR1, S1PR2, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC22A4, SLC26A2, SLC26A4 inkl. CEVA haplotype, SLC26A5, SLC44A4, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TBC1D24, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WBP2, WFS1


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