|Genes Sequenced||CORE: 52 genes sequenced: ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GLA, JPH2, JUP, LAMP2, LMNA, MTO1, MYBPC3, MYH7, MYL2, MYL3, NEXN, PKP2, PLN, PRKAG2, RBM20, SCN5A, SDHA, SGCD, SLC25A4, TAZ, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR and VCL.
EXPANDED: 96 genes sequenced: ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, ANKRD1, BAG3, CALR3, CAV3, CDH2, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA6, GATAD1, GLA, HAND1, ILK, JPH2, JUP, KLF10, LAMA4, LAMP2, LDB3, LMNA, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYLK3, MYOM1, MYOZ2, MYPN, NEBL, NKX2-5, NEXN, NRAP, OBSCN, PDLIM3, PKP2, PLEKHM2, PLN, PPCS, PRDM16, PRKAG2, PSEN2, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, SLC25A4, TAZ, TBX20, TCAP, TGFB3, TJP1, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, TXNRD2, YWHAE, VCL and ZBTB17.
aCGH send out in certain cases: ALMS1, DSP and PKP2.
|Test Details||Extraction of DNA, capture of the genes to be assayed, and sequencing on the Illumina platform. Identified variants are categorized as pathogenic, likely pathogenic, variant of unknown significance, likely benign, or benign. An interpretation of results is provided based on the medical literature and in the context of the indication for testing. aCGH send out testing for the ALMS1, DSP and PKP2 genes is performed when NGS does not identify any pathogenic or likely pathogenic variants.|
|Performed||Monday – Friday|
|Turnaround||3 – 4 weeks|
|Specimen Requirements||Peripheral blood or Buccal swabs|
|Sample Collection||1 EDTA (lavender top) tube containing 2-5 mL peripheral blood or 2-4 Buccal swabs|
|Minimum Sample Volume||2 ml|
|Storage/Transport Conditions||Ambient / room temperature preferred. However, if delivery / shipment of specimen is greater than four (4) hours, refrigerate at 4 degrees until delivery / shipment by overnight delivery. In seasonal warmer weather, include cold pack (DO NOT FREEZE).|
|Unacceptable Conditions||Frozen specimens, clotted or hemolyzed specimens, inappropriate tube type|
|CPT Code(s)||81439 (Core panel); 81439 (Expanded panel); 81479 (aCGH send out)|