Dystoni

​Analyse

Metode

Vejledende svartid

Materiale og
forsendelse

Mutationsscreening – genpanel

Next Generation
Sequencing (NGS)

Dystoni genpanel (46 gener):
Gener  associeret med dystoni, Parkinson-dystoni eller NBIA (Neurodegeneration with Brain Iron accumulation):
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

Mutationsscreening – enkeltgen(er)*
(GCH1, PTS, SPR, TH)

Sanger sekventering
For GCH1 også MLPA

2 - 3 måneder

- do -

MLPA

SALSA MLPA kit P099: SGCE, TH og GCH1
SALSA MLPA kit P059: ATP1A3, THAP1, TOR1A og PRKRA
SALSA MLPA kit P138: SLC2A1 og STXBP1
SALSA MLPA kit P120: PANK2 og PLA2G6

1 - 2 måneder

- do -

Bæreranalyse /
analyse for
specificeret mutation

Sanger sekventering
og MLPA

1 - 2 måneder

- do -

Prænatal diagnostik
Kun efter aftale

Kontakt

Medicinsk Genetisk Laboratorium, Kennedy Centret

Rekvisition

Rekvisition til postnatal diagnostik - Kennedy Centret​​ (pdf, åbner i nyt vindue)​

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

Dystoni genpanel (46 gener):
ACTB (NM_001101.2; OMIM: 102630); ADCY5 (NM_183357.2; OMIM: 600293); ANO3 (NM_031418.2; OMIM: 610110); AP4B1 (NM_006594.3; OMIM: 607245); ATP1A3 (NM_152296.4; OMIM: 182350);
ATP7B (NM_000053.3; OMIM: 606882); C19ORF12 (NM_001031726.3; OMIM: 614297); CACNA1B (NM_000718.3; OMIM: 601012); COASY (NM_025233.6; OMIM: 609855); COL6A3 (NM_004369.3; OMIM: 120250); CYP27A1  (NM_000784.3; OMIM: 606530); DDC (NM_000790.3; OMIM: 107930); DNAJC12 (NM_021800.2; OMIM: 606060); FA2H (NM_024306.4; OMIM: 611026); FTL (NM_000146.3; OMIM: 134790); GAMT (NM_000156.5; OMIM: 601240); GCH1 (NM_000161.2; OMIM: 600225); GJB1 (NM_000166.5; OMIM: 304040); GNAL (NM_001142339.2; OMIM: 139312); GNAO1 (NM_020988.2; OMIM: 139311); HPCA (NM_002143.2; OMIM: 142622);  KCNMA1 (NM_002247.3; OMIM: 600150); KCTD17 (NM_001282684.1; OMIM: 616386); KMT2B (NM_014727.2; OMIM: 606834); NKX2-1 (NM_001079668.2; OMIM: 600635); PANK2 (NM_153638.2; OMIM: 606157); PCBD1 (NM_000281.3; OMIM: 126090); PLA2G6 (NM_003560.2;OMIM: 603604); PNKD1 (NM_015488.4; OMIM:118800); PNKP (NM_007254.3; OMIM: 605610); PRKRA (NM_003690.4; OMIM: 603424); PRRT2 (NM_145239.2; OMIM: 614386); PTS (NM_000317.2; OMIM: 612719); SCP2/SYCP2 (NM_002979.4; OMIM: 604105); SGCE (NM_003919.2; OMIM: 604149); SLC2A1 (NM_006516.2; OMIM: 138140); SLC6A3 (NM_001044.4; OMIM: 126455); SPR (NM_003124.4; OMIM: 612716); TAF1 (NM_004606.4; OMIM: 313650); TH (NM_199292.2; OMIM: 191290); THAP1 (NM_018105.2; OMIM: 609520); TOR1A (NM_000113.2; OMIM: 605204); TUBB4A (NM_006087.3; OMIM: 602662); VAC14 (NM_018052.3; OMIM: 604632); VPS16 (NM_022575.3; OMIM: 608550); WDR45 (NM_007075.3; OMIM: 300526)  



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