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Cardiomyopathy NGS

Order Code
1723125
CPT
81439
Test Details
TAT

21 days

Methodology

Next Generation Sequencing

Remarks

Genelist (158): ABCC8, AKT2, APPL1, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, COX15, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DMPK, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EPG5, EYA4, FGD1, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FXN, GAA, GATA4, GATAD1, GLA, HAMP, HCN4, HFE1, HJV, HRAS, IDH2, ILK, JPH2, JUP, KCND3, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYLK3, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NPPA, NRAP, NEBL, NEXN, NF1, NKX2-5, NRAS, PCCA, PCCB, PDLIM3, PKP2, PLN, PPCS, PPP1CB, PRDM16, PRKAG2, PRKAR1A, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RASA1, RASA2, RBCK1, RBM20, RIT1, RRAS, RYR2, SCN5A, SCO2, SCN1B, SDHA, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SLC22A5, SELENON, SLC40A1, SPRED1, SOS1, SOS2, SURF1, SYNE1, SYNE2, TAFAZZIN, TANGO2, TBX20, TCAP, TFR2, TGFB3, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TRDN, TRIM63, TPM1, TTN, TTR, TXNRD2, VCP, VCL, XK

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Identify genetic mutations associated with cardiomyopathy; facilitate diagnosis and management.

Specimen Type

Peripheral Blood

Volume

3 mL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 7 days
Order Code
1723125
CPT
81439
Test Details
TAT

21 days

Methodology

Next Generation Sequencing

Remarks

Genelist (158): ABCC8, AKT2, APPL1, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ALMS1, ALPK3, ANKRD1, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, COX15, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DMPK, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EPG5, EYA4, FGD1, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FXN, GAA, GATA4, GATAD1, GLA, HAMP, HCN4, HFE1, HJV, HRAS, IDH2, ILK, JPH2, JUP, KCND3, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYLK3, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF2, NPPA, NRAP, NEBL, NEXN, NF1, NKX2-5, NRAS, PCCA, PCCB, PDLIM3, PKP2, PLN, PPCS, PPP1CB, PRDM16, PRKAG2, PRKAR1A, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RASA1, RASA2, RBCK1, RBM20, RIT1, RRAS, RYR2, SCN5A, SCO2, SCN1B, SDHA, SGCB, SGCD, SGCG, SHOC2, SLC25A4, SLC22A5, SELENON, SLC40A1, SPRED1, SOS1, SOS2, SURF1, SYNE1, SYNE2, TAFAZZIN, TANGO2, TBX20, TCAP, TFR2, TGFB3, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TRDN, TRIM63, TPM1, TTN, TTR, TXNRD2, VCP, VCL, XK

Performing Location

Accredited NRL Laboratory

Testing Frequency

Once a week

Test Overview

Identify genetic mutations associated with cardiomyopathy; facilitate diagnosis and management.

Specimen Type

Peripheral Blood

Volume

3 mL

Specimen Container

Lavender-top (EDTA) tube

Patient Preparation

No special preparation is required for this test. You may eat, drink, and take your medications as normal, unless instructed otherwise by your healthcare provider.

Collection

This test does not require any special collection or pre-analytical handling. Follow routine specimen collection protocols.

Specimen Stability
Temperature Period
Refrigerated 7 days