Multigen-Diagnostik

Panel-Nummer: ID349.00

Gene (110)

ABCC9	ACTC1	ACTN2	AKAP9	ALG10B
ALPK3	ANK2	ANKRD1	BAG3	BAG5
CACNA1C	CACNA2D1	CACNB2*	CALM1	CALM2
CALM3	CASQ2	CAV3	CDH2	CRYAB
CSRP3	CTNNA3	DES	DMD	DOLK
DPP6	DSC2	DSG2	DSP	EMD
EYA4	FGF12	FHL1	FHOD3	FKRP
FKTN	FLNC	GATAD1	GLA	GNB2
GPD1L	HCN4	JPH2	JUP	KCNA5
KCND2	KCND3	KCNE1	KCNE2	KCNE3
KCNE5	KCNH2	KCNJ2	KCNJ5	KCNJ8
KCNQ1	LAMA4	LAMP2	LDB3	LMNA
MYBPC3	MYH6	MYH7	MYL2	MYL3
MYLK2	MYOZ2	MYPN	NEXN	NKX2-5
PKP2	PLN	PPCS	PRDM16	PRKAG2
PSEN1	PSEN2	RAF1	RANGRF	RBM20
RPL3L	RYR2	SCN10A	SCN1B	SCN2B
SCN3B	SCN4B	SCN5A	SDHA	SEMA3A
SGCD	SLC4A3	SLMAP	SNTA1	TBX5
TCAP	TECRL	TGFB3	TMEM43	TNNC1
TNNI3	TNNI3K	TNNT2	TPM1	TRDN
TRIM63	TRPM4	TTN	TTR	VCL

Methodik

Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).

Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.

Diagnostik

Gen-Panel ID349.00

Plötzlicher Herztod: 110 Gene (366,9 kb)

ABCC9, ACTC1*, ACTN2*, AKAP9, ALG10B, ALPK3, ANK2, ANKRD1, BAG3*^,**, BAG5, CACNA1C*, CACNA2D1, CACNB2*, CALM1, CALM2, CALM3, CASQ2*, CAV3*^,**, CDH2*, CRYAB, CSRP3*, CTNNA3, DES*, DMD*^,**, DOLK, DPP6, DSC2*,**, DSG2*^,**, DSP*^,**, EMD*, EYA4, FGF12, FHL1*, FHOD3, FKRP*, FKTN*, FLNC*, GATAD1, GLA*^,**, GNB2, GPD1L*, HCN4*, JPH2, JUP*^,**, KCNA5*, KCND2, KCND3*, KCNE1*^,**, KCNE2*^,**, KCNE3*, KCNE5*, KCNH2*^,**, KCNJ2*^,**, KCNJ5, KCNJ8*, KCNQ1*^,**, LAMA4, LAMP2*, LDB3, LMNA*^,**, MYBPC3*^,**, MYH6*, MYH7*^,**, MYL2*, MYL3*, MYLK2, MYOZ2, MYPN*, NEXN*, NKX2-5*, PKP2*^,**, PLN, PPCS, PRDM16*, PRKAG2*, PSEN1, PSEN2, RAF1*, RANGRF, RBM20*,  RPL3L, RYR2*^,**, SCN10A, SCN1B*, SCN2B*^,**, SCN3B*, SCN4B, SCN5A*^,**, SDHA*, SEMA3A, SGCD, SLC4A3, SLMAP, SNTA1, TBX5, TCAP, TECRL, TGFB3*^,**, TMEM43*, TNNC1*, TNNI3*, TNNI3K, TNNT2*^,**, TPM1*, TRDN, TRIM63, TRPM4, TTN, TTR*, VCL*

Arrhythmien (BRGDA, LQT) und plötzlicher Herztod: 65 Gene (268,2 kb)

ABCC9, AKAP9, ALG10B, ANK2, CACNA1C*, CACNA2D1, CACNB2*, CALM1, CALM2, CALM3, CASQ2*, CAV3*^,**, CDH2*, CTNNA3, DES*, DPP6, DSC2*^,**, DSG2*^,**, DSP*^,**, EMD*, FGF12, GNB2, GPD1L*, HCN4*, JPH2, JUP*^,**, KCNA5*, KCND2, KCND3*, KCNE1*^,**, KCNE2*^,**, KCNE3*, KCNE5*, KCNH2*^,**, KCNJ2*^,**, KCNJ5, KCNJ8*, KCNQ1*,**, LMNA*^,**, MYBPC3*^,**, MYH6*, NKX2-5*, PKP2*^,**, PLN, PRKAG2*, RANGRF, RYR2*^,**, SCN10A, SCN1B*, SCN2B*^,**, SCN3B*, SCN4B, SCN5A*^,**, SEMA3A, SLC4A3, SLMAP, SNTA1, TBX5, TECRL, TGFB3*^,**, TMEM43*, TNNI3*, TRDN, TRPM4, TTN

Kardiomyopathien (HCM, DCM) und plötzlicher Herztod: 63 Gene (247,7 kb)

ABCC9, ACTC1*, ACTN2*, ALPK3, ANKRD1, BAG3*^,**, BAG5, CAV3*^,**, CRYAB, CSRP3*, DES*, DMD*^,**, DOLK, DSG2*^,**, DSP*^,**, EMD*, EYA4, FHL1*, FHOD3, FKRP*, FKTN*, FLNC*, GATAD1, GLA*^,**, JPH2*, JUP*^,**, LAMA4, LAMP2*, LDB3, LMNA*,**, MYBPC3*^,**, MYH6*, MYH7*^,**, MYL2*, MYL3*, MYLK2, MYOZ2, MYPN*, NEXN*, NKX2-5*, PLN, PPCS, PRDM16*, PRKAG2*, PSEN1, PSEN2, RAF1*, RBM20*,  RPL3L, SCN5A*^,**, SDHA*, SGCD, TCAP, TMEM43*, TNNC1*, TNNI3*, TNNI3K, TNNT2*^,**, TPM1*, TRIM63, TTN, TTR*, VCL*

^{* auch als Einzelgen-Diagnostik mittels Sanger-Sequenzierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar}

Material

3 - 5 ml EDTA-Blut

Dauer

3 - 5 Wochen