Synonymer: | DCM |
Beskrivelse: | Analysen indeholder altid følgende genundersøgelser:
ACTC1-gen (NPU30110, NM_005159)
BAG3-gen (NPU28904, NM_004281)
CSRP3-gen (NPU31969, NM_003476)
FHOD3-gen (NPU - , NM_025135)
FLNC-gen (NPU - , NM_001458)
LAMP2-gen (NPU36354, NM_002294)
LMNA-gen (NPU36460, NM_170707)
MYBPC3-gen (NPU37159, NM_000256)
MYH7-gen (NPU37181, NM_000257)
MYL2-gen (NPU37186, NM_000432)
MYL3-gen (NPU37187, NM_000258)
NEXN-gen (NPU29196, NM_144573)
PLN-gen (NPU38415, NM_002667)
RBM20-gen (NPU29207, NM_001134363)
SCN5A-gen (NPU39750, NM_198056)
TCAP-gen (NPU40639, NM_003673)
TNNI3-gen (NPU40908, NM_000363)
TNNC1-gen (NPU40904, NM_003280)
TNNT2-gen (NPU40910, NM_001001430)
TPM1-gen (NPU40963, NM_001018005)
TTN-gen (NPU41336, NM_001256850)
VCL-gen (NPU29216, NM_014000)
Følgende gener, kan bestilles som extended panel:
ABCC9-gen (NPU29167, NM_005691)
ACTN2-gen (NPU29169, NM_001103)
ADRB2-gen (NPU - , NM_000024)
ALPK3-gen (NPU - , NM_020778)
ANKRD1-gen (NPU56511, NM_014391)
ATP7A-gen (NPU19020, NM_000052)
CAV3-gen (NPU31231, NM_033337)
CAVIN4-gen (NPU - , NM_001018116)
CHRM2-gen (NPU - , NM_000739)
CRYAB-gen (NPU31911, NM_001885)
CTF1-gen (NPU29178, NM_001330)
DES-gen (NPU29927, NM_001927)
DMD-gen (NPU19058, NM_004006)
DTNA-gen (NPU29180, NM_001390)
EYA4-gen (NPU29183, NM_004100)
FBLN2-gen (NPU - , NM_001004019)
FHL2-gen (NPU56919, NM_201555)
FOXD4-gen (NPU - , NM_207305)
GATA4-gen (NPU - , NM_002052)
GATA6-gen (NPU - , NM_005257)
GATAD1-gen (NPU56519, NM_021167)
HCN4-gen (NPU29932, NM_005477)
HSPB6-gen (NPU - , NM_144617)
ILK-gen (NPU56522, NM_004517)
KCNK17-gen (NPU - , NM_031460)
LAMA4-gen (NPU56524, NM_002290)
LDB3-gen (NPU29930, NM_001080116)
LIMS2-gen (NPU - , NM_001136037)
MIB1-gen (NPU - , NM_020774)
MYH6-gen (NPU37180, NM_002471)
MYOM1-gen (NPU - , NM_003803)
MYPN-gen (NPU56535 , NM_032578)
NEBL-gen (NPU56536, NM_006393)
NKX2-5-gen (NPU - , NM_004387)
NKX2-6-gen (NPU - , NM_001136271)
OBSCN-gen (NPU - , NM_052843)
PDLIM3-gen (NPU - , NM_014476)
PHKA1-gen (NPU - , NM_002637)
PMM2-gen (NPU19173, NM_000303)
PPA2-gen (NPU - , NM_176869)
PRDM16-gen (NPU - , NM_022114)
PSEN1-gen (NPU38775, NM_000021)
PSEN2-gen (NPU38776, NM_000447)
RAF1-gen (NPU28902, NM_002880)
RASA2-gen (NPU - , NM_006506)
RRAS-gen (NPU - , NM_006270)
SCN9A-gen (NPU - , NM_002977)
SDHA-gen (NPU57126, NM_004168)
SGCD-gen (NPU39938, NM_000337)
SYNM-gen (NPU - , NM_145728)
TBX20-gen (NPU - , NM_001077653)
TMPO-gen (NPU29213, NM_003276)
TNNI3K-gen (NPU - , NM_015978)
TTR-gen (NPU19239, NM_000371)
TXNRD2-gen (NPU - , NM_006440)
ZBTB17-gen (NPU - , NM_003443)
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Prøvetagningsrør (Labka): | Blå3,5S (lyseblå 3,5ml) KLM-155 |
Mindste prøvemængde: | Mindste prøvemængde: 3,5ml stabiliseret blod |
| Ønskes diagnose på familiemedlem kan denne bestilles som
EPC00177: Diagnose-KB;DNA(spec.) |
Præanalytisk (prøve): | Forsendelse: Kan ske med alm. post |
Rigshospitalet Blegdamsvej Afdeling for Klinisk Biokemi, 3011
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Akkrediteret: DANAK
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