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Test Code CombCrdPn Combined Cardiac Gene Panel

Important Note

This panel includes 120 genes: ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FKRP, FKTN, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, SOS1, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL

 

Concurrent sequencing and deletion/duplication analysis is performed for all genes except CALM1, HRAS, FKRP and the for the 14 mitochondrial genes (MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2) for which only sequencing is performed.*

 

*See test info sheet for more details regarding test methodology

Clinical System Name

Combined Cardiac Gene Panel

Sample Requirements

Preferred Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 2 - 5 mL

Minimum Vol: 1 mL for small infants

 

Alternative Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15 µg of purified DNA at a concentration of at least 20 µg/ml 

Minimum Vol:

 

Alternative Specimen: Oral Rinse (30-40 mL)|Buccal Swab

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-6 C

Storage location:  Do not spin. Affix large Cerner labels to tubes and place in refrigerator send-outs rack.  Store extra labels and copy of requisition in the clear plastic box attached to CPA refrigerator. Alert Send-outs team.

 

Off-site collection:

Stability

Specimen Type Temperature Time
Whole Blood Room temp 7 d
Whole Blood Refrigerated 7 d
Whole Blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT Performed TAT
N   4 wks

 

Performing Laboratory

GeneDx

Department

Department:  GeneDX, 207 Perry Parkway, Gaithersburg, MD 20877
Phone Number: (301) 519-2100

Reference Range

Interpretive report provided.
 

Methodology

Method: Next-Gen Sequencing and Exon Array CGH

 

Concurrent sequencing and deletion/duplication analysis is performed for all genes except CALM1, HRAS, FKRP and the for the 14 mitochondrial genes (MTND1, MTND5, MTND6, MTTD, MTTG, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2) for which only sequencing is performed.*

 

*See test info sheet for more details regarding test methodology

Special Instructions

Links to:

 

GeneDx

Send Out Instructions

 

Reference Test Name: Combined Cardiac Panel
Reference Test Number: 935
Instructions:

GeneDx accepts Saturday delivery. Whole blood specimens may be stored refrigerated for up to 7 days prior to shipping. Ship overnight via FedEx M - F, ambient temperature.