Ataxi

​​

Analyse

Me​tode

Vejledende svartid


Materiale og
forsendelse

Mutationsscreening – genpanel

Next Generation
Sequencing (NGS)

Ataxi genpanel (81 gener):

ABCB7, ADCK3/COQ8A, ADCY5, AFG3L2, ANO10, APTX, ATCAY, ATP1A3, ATP13A2, ATP2B3, C19ORF12, CA8, CACNA1A, CACNA1G, CACNB4, CCDC88C, CLCN1, COASY, COX20, CP, CWF19L1, CYP27A1, DAGLA, DNMT1, EEF2, ELOVL4, ELOVL5, FA2H, FGF14, FLVCR1, FTL, FXN, GAMT, GBA2, GJB1, GNAO1, GRID2, GRM1, ITPR1, KCNA1, KCNC3, KCND3, KCNMA1, KIAA0226/RUBCN, MARS2, NKX2-1, PANK2, PDYN, PLA2G6, PMPCA, PNKD1, PNKP, POLG, PPP2R2B, PRKCG, PRRT2, RNF216, SACS, SCN8A, SETX, SLC1A3, SNX14, SPG11, SPTBN2, STUB1, SYNE1, SYT14, TARDBP, TBP, TDP1, TGM6, TMEM240, TPP1, TRPC3, TTBK2, TTPA, VAMP1, VLDLR, WDR45, WDR81, WWOX.

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

Bæreranalyse /
analyse for
specificeret mutation

Sanger sekventering

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)

NB: Ved denne analyse undersøges der ikke for repeat ekspansion. Gener associeret med ataxi som følge af repeat ekspansion (ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), ATXN7 (SCA7), ATXN8/ ATXN8OS (SCA8), ATXN10 (SCA10), og NOP56) er ikke indeholdt i gen panelet. FXN, PPP2R2B, TBP og CACNA1A undersøges kun for missense og andre enkelt-få basepar mutationer.

Ataxi genpanel (81 gener):
ABCB7 (NM_004299.4; OMIM: 300135); ADCK3/COQ8A (NM_020247.4; OMIM: 606980); ADCY5 (NM_183357.2; OMIM: 600293); AFG3L2 (NM_006796.2; OMIM: 604581); ANO10 (NM_018075.3; OMIM: 613726); APTX (NM_175073.2; OMIM: 606350); ATCAY (NM_033064.4; OMIM: 601238); ATP1A3 (NM_152296.4); ATP13A2 (NM_022089.3; OMIM: 610513); ATP2B3 (NM_001001344.2; OMIM: 300014); C19ORF12 (NM_001031726.3; OMIM: 614297); CA8 (NM_004056.4; OMIM: 114815); CACNA1A (NM_001127221.1; OMIM: 601011); CACNA1G (NM_018896.4; OMIM: 604065); CACNB4 (NM_000726.3; OMIM: 601949); CCDC88C (NM_001080414.3; OMIM: 611204); CLCN1 (NM_000083.2; OMIM: 118425); COASY (NM_025233.6; OMIM: 609855); COX20 (NM_198076.4; OMIM: 614698); CP (NM_000096.3; OMIM: 117700); CWF19L1 (NM_018294.5; OMIM: 616120); CYP27A1  (NM_000784.3; OMIM: 606530); DAGLA (NM_006133.2, OMIM: 614015); DNMT1 (NM_001130823.1; OMIM: 126375); EEF2 (NM_001961.3; OMIM: 130610); ELOVL4 (NM_022726.3; OMIM: 605512); ELOVL5 (NM_021814.4; OMIM: 611805); FA2H (NM_024306.4; OMIM: 611026); FGF14 (NM_004115.3; OMIM: 601515); FLVCR1 (NM_014053.3; OMIM: 609144); FTL (NM_000146.3; OMIM: 134790); FXN (NM_000144.4; OMIM: 606829); GAMT (NM_000156.5; OMIM: 601240); GBA2 (NM_020944.2; OMIM: 609471); GJB1 (NM_000166.5; OMIM: 304040 ); GNAO1 (NM_020988.2; OMIM: 139311); GRID2 (NM_001510.3; OMIM: 602368); GRM1 (NM_001278064.1; OMIM: 604473); ITPR1 (NM_002222.5; OMIM: 147265); KCNA1 (NM_000217.2; OMIM: 176260); KCNC3 (NM_004977.2; OMIM: 176264); KCND3 (NM_004980.4; OMIM: 605411); KCNMA1 (NM_002247.3; OMIM: 600150); KIAA0226/RUBCN (NM_001145642.3;  OMIM: 613516); MARS2  (NM_138395.3; OMIM: 609728); NKX2-1 (NM_001079668.2; OMIM: 600635); PANK2 (NM_153638.2; OMIM: 606157); PDYN (NM_024411.4; OMIM:131340); PLA2G6 (NM_003560.2; OMIM: 603604 ); PMPCA (NM_015160.2; OMIM: 613036); PNKD1 (NM_015488.4; OMIM:118800 ); PNKP (NM_007254.3; OMIM: 605610); POLG (NM_002693.2; OMIM: 174763); PPP2R2B (NM_181678.2; OMIM: 604325); PRKCG  (NM_002739.3; OMIM: 176980); PRRT2 (NM_145239.2; OMIM: 614386); RNF216 (NM_207111.3; OMIM: 609948); SACS (NM_014363.5; OMIM: 604490); SCN8A (NM_014191.3; OMIM: 600702); SETX (NM_015046.5;  OMIM: 608465); SLC1A3 (NM_004172.4; OMIM: 600111); SNX14 (NM_153816.5; OMIM: 616105); SPG11 (NM_025137.3; OMIM: 610844); SPTBN2 (NM_006946.2; OMIM: 604985); STUB1 (NM_005861.3; OMIM: 607207); SYNE1 (NM_033071.3; OMIM: 608441); SYT14 (NM_001146261.2; OMIM: 610949); TARDBP (NM_007375.3; OMIM: 605078); TBP (NM_003194.4; OMIM: 600075); TDP1 (NM_018319.3; OMIM: 607198); TGM6 (NM_198994.2; OMIM: 613900); TMEM240 (NM_001114748.1; OMIM: 616101); TPP1 (NM_000391.3; OMIM: 607998); TRPC3 (NM_001130698.1; OMIM: 602345); TTBK2  (NM_173500.3; OMIM: 611695 ); TTPA (NM_000370.3; OMIM: 600415); VAMP1 (NM_014231.4; OMIM: 185880); VLDLR (NM_003383.3; OMIM: 192977); WDR45 (NM_007075.3; OMIM: 300526); WDR81 (NM_001163809.1; OMIM: 614218); WWOX (NM_016373.3; OMIM: 605131).



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