| Mutationsscreening – genpanel |
Next Generation
Sequencing (NGS)
Dystoni genpanel (46 gener):
ACTB, ADCY5, ANO3, AP4B1, ATP1A3, ATP7B, C19ORF12, CACNA1B, COASY, COL6A3, CYP27A1, DDC, DNAJC12, FA2H, FTL, GAMT, GCH1, GJB1, GNAL, GNAO1, HPCA, KCNMA1, KCTD17, KMT2B, NKX2-1, PANK2, PCBD1, PLA2G6, PNKD1, PNKP, PRKRA, PRRT2, PTS, SCP2/SYCP2, SGCE, SLC2A1, SLC6A3, SPR, TAF1, TH, THAP1, TOR1A, TUBB4A, VAC14, VPS16, WDR45
Information om movement disorder genpanelet kan ses her.
|
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
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