Pan Cardio Panel

Starting on June 26, 2013, Ambry Genetics will no longer accept samples for some of its cardiovascular next generation sequencing (NGS) panels. Suspended panels include: Brugada syndrome, Long QT syndrome, Arrhythmia, DCM, HCM, Cardiomyopathy and Pan Cardio. We are offering TAADNext (NGS panel for Marfan syndrome, Aneurysms, and Related Disorders), and Familial Hypercholesterolemia testingIn the near future we plan to release updated, targeted cardiovascular NGS panels, with the addition of deletion/duplication analysis.

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Starting on June 26, 2013, Ambry Genetics will no longer accept samples for some of its cardiovascular next generation sequencing (NGS) panels. Suspended panels include: Brugada syndrome, Long QT syndrome, Arrhythmia, DCM, HCM, Cardiomyopathy and Pan Cardio. We are offering TAADNext (NGS panel for Marfan syndrome, Aneurysms, and Related Disorders), and Familial Hypercholesterolemia testingIn the near future we plan to release updated, targeted cardiovascular NGS panels, with the addition of deletion/duplication analysis.

In cases where there is a complex pattern of cardiovascular disease, limited family history or sudden unexplained death, a clinician may have many genes and conditions in their differential diagnosis. In these scenarios, a comprehensive testing panel encompassing genes associated with a wide variety of cardiovascular disorders may be the most appropriate means of attaining a diagnosis.

Disease Name 
Cardiovascular Disorders
Disease Information 

With a number of cardiovascular disorders, there can be significant overlap in the signs, symptoms and progression of disease as well as in the genetic cause of disease.

Examples include:

  • People who with DCM can have mutations in genes that have also been implicated in HCM (such as MYH7, MYBPC3, or TNNT2)
  • Mutations in SCN5A have been observed in people with DCM, Brugada syndrome and long QT syndrome
  • DCM or ARVD/C can present initially with arrhythmia alone

At times, sudden unexplained death can occur in situations where an underlying genetic cause is suspected but limited or no clinical information is available. Sudden unexplained death can result from a number of cardiovascular conditions, many of which can be undiagnosed prior to death and suspected at the time of autopsy. Depending on the patient’s personal and family history, a clinician might consider ordering the Pan Cardio Panel in all of these cases. Ambry also offers several smaller panels that include subsets of genes from the Pan Cardio Panel. These panels may be more specific to a particular person’s phenotype or clinical findings.

The panels include:

  • Cardiomyopathy Panel (56 genes)
  • DCM Panel (37 genes)
  • HCM Panel (31 genes)
  • Arryhthmia Panel (29 genes)
  • Long QT Syndrome Panel (12 genes)
  • Brugada Syndrome Panel (9 genes)

 

Test Description 

The Pan Cardio Panel targets detection of mutations in 79 genes by next-generation sequencing of all coding exons plus at least 5 bases into the 5’ and 3’ ends of all the introns.

Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified by agarose gel electrophoresis. Sequence enrichment is carried out by incorporating the gDNA into microdroplets along with primer pairs designed to the target gene coding exons followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Suspect variant calls other than those classified as "likely benign" or "benign" are verified by sanger sequencing in sense and antisense directions. 

Pan Cardio Panel Gene List: ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALR3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EYA4, FXN, GATA4, GLA, GPD1L, ILK, JAG1, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ8, KCNQ1, LAMP2, LDB3/ZASP, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2.5, PDLIM3, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TBX1, TBX5, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL

Mutation Detection Rate 

The average analytical sensitivity across all genes is >97% of described mutations.

Specimen Requirements 

Blood: 6-10 cc blood in purple top EDTA tube (preferred) or yellow top citric acetate tube.
Store at 2-8°C. Do not freeze.
Ship at Room temperature for two-day delivery.

DNA: 20 μg of of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA);
Preferred at ~200 ng/μl.
Please provide DNA with OD 260:280 ratio (preferred 1.7-1.9) and send agarose picture with high-molecular-weight genomic DNA, if available.
Storage at -20°C.
Ship frozen on dry ice is preferred, or ship on ice.

*NOTE: Saliva not accepted for this test at this time.

Turnaround Time 
Technique Weeks
Pan Cardio Panel 12-16

 

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