Comprehensive Cardiomyopathy Panel (190)

 

Related Genes: ABCC9, ACADVL, ACTA2, ACTC1, ACTN2, AGK, AGL, AKAP9, ALG1, ALG12, ALMS1, ALPK3, ANK2, ANKRD1, ARSB, BAG3, BRAF, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN4, CBL, CBS, CHRM2, COL3A1, COL5A1, COL5A2, COX10, COX15, CPT2, CRYAB, CSRP3, CTNNA3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FBN1, FBN2, FHL1, FKRP, FKTN, FLNA, FLNC, GAA, GATA4, GATA6, GATAD1, GBA, GBE1, GJA5, GLA, GLB1, GPD1L, GUSB, HADHA, HCN4, HEXB, HRAS, IDUA, ILK, JAG1, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MED12, MIB1, MLYCD, MTO1, MUT, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOM1, MYOZ2, MYPN, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NEBL, NEXN, NKX2-5, NOTCH1, NPPA, NRAS, OBSCN, PCCA, PCCB, PDLIM3, PET100, PGM1, PHYH, PKP2, PLEKHM2, PLN, PLOD1, PMM2, PRDM16, PRKAG2, PRKG1, PTPN11, RAF1, RANGRF, RASA1, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO1, SDHA, SDHAF1, SGCD, SGSH, SHOC2, SKI, SLC22A5, SLC25A20, SLC2A10, SLMAP, SMAD3, SMAD4, SNTA1, SOS1, SURF1, TAZ, TBX1, TBX5, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL

Cardiomyopathies are diseases of the heart muscle, which can be inherited or acquired. The main genetic cardiomyopathies include dilated, hypertrophic, restrictive, and arrhythmogenic right ventricular cardiomyopathy. Left ventricular noncompaction cardiomyopathy is a very rare condition that can occur in isolation or in conjunction with other cardiomyopathies. In addition, cardiomyopathy is part of the phenotypic spectrum of several syndromic and metabolic conditions and may be the predominant or earliest feature. In those cases, it can be difficult to distinguish these from isolated forms. Early signs and symptoms can include shortness of breath with physical exertion, fatigue. Arrhythmias are frequently present. As cardiomyopathy worsens, the heart frequently weakens, often leading to heart failure and sudden death. The prevalence of cardiomyopathies varies from 1 in 250 people to 1 in 5,000 people depending on the type of disease.

Genetic testing of genes associated with inherited forms of cardiomyopathy should be considered if the presence of cardiomyopathy observed in a patient cannot be explained by an acquired etiology and/or have a family history. The Comprehensive Cardiomyopathy panel includes six well-established subpanels: Comprehensive Arrythmias, Arrhythmogenic Right Ventricular Cardiomyopathy, Dilated Cardiomyopathy, Hypertrophic Cardiomyopathy, Metabolic Cardiomyopathy, and Left Ventricular Non-Compaction Cardiomyopathy.

The disorders included in this panel may be inherited in an autosomal dominant (AD), autosomal recessive (AR), or X-linked (XL) manner.

Clinical Utility: Genetic testing of an individual may be indicated to distinguish hereditary disorder from acquired (non-genetic) causes, provide information on the likelihood of related health issues, guide clinical management, and establish disease risk to other family members and future generations.

Methods: The Comprehensive Cardiomyopathy Panel offered by Sema4 primarily utilizes next-generation sequencing (NGS) to identify variants within the genes analyzed. Copy number variant (CNV) detection by NGS is also utilized to increase diagnostic yield. Supplemental and confirmatory technology used in this panel may include targeted genotyping, multiplex ligation-dependent probe amplification (MLPA), exon array, quantitative PCR, and Sanger sequencing. Ultra high-resolution medical exon array (UHRMEA) is available for deletion/duplication studies of gene(s) within this panel as either reflex (add-on), concurrent, or standalone test. UHRMEA provides single exon level coverage for the majority of the exons within this panel. Variant classification and interpretation are performed based on the American College of Medical Genetics Standards and guidelines for the interpretation of sequence variants.

Targeted Testing: Targeted familial mutation analysis or single gene testing is available for any of the genes on this panel. Prenatal diagnosis is also available for known familial variants; please contact our laboratory at 800-298-6470 to discuss prior to sending any prenatal samples.


Specimen Requirements

 

Postnatal blood samples:
2 yellow-top (ACD-A or ACD-B) or 2 lavender-top (EDTA) tubes, 5-10 mL of blood from the patient are required. One blood tube from both parents is requested.

Newborn/child:
1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) tube, 2 mL of blood from the patient are required. Additionally, 1 yellow-top (ACD-A or ACD-B) or 1 lavender-top (EDTA) 5-10 mL tube of blood from both parents is requested.

Prenatal:
Please inquire with lab (800-298-6470 option 2)

Prenatal testing for a known familial variant:

  • Two confluent T-25 flasks of cultured cells from amniotic fluid or chorionic villi
  • >4 mg of direct chorionic villi tissue
  • 15 mL of direct amniotic fluid
  • 5-10 mL of blood in an EDTA tube (lavender top) is required from each biological parent. Parental blood samples may be used for maternal cell contamination studies or confirmation studies.
  • Send in previous report of known familial variant with specimen

 

Extracted DNA

  • A minimum of 10 μL DNA (50-250 ng/μL) is required for testing. 20 μL DNA (50-350 ng/μL) is recommended

 

Saliva

  • Saliva specimens are accepted upon request. Please contact our laboratory to obtain saliva kits
  • Saliva samples should be collected in Oragene DNA (OG-500) kits by DNA Genotek

 

Cheek Swab

  • 1 cheek swab specimen collected from ORAGENE kit from the patient is required. 1 cheek swab specimen collected from ORAGENE kit from both parents is requested.

Ordering Information

 

Shipping:
Samples should be kept and shipped refrigerated or at room temperature. Do not freeze specimens.

Include the following with each sample:

  • Completed and signed test requisition form and informed consent
  • Billing information or payment (include copy of insurance card)
  • Contact information for referring physician
  • Testing to be performed
  • Indication for testing, patient’s family history, ethnic background and prior relevant test results

 

Send same day or overnight (check for morning delivery) to:

Sema4
62 Southfield Ave
Stamford, CT 06902

 

Contact:

gc@sema4.com
Tel: 800-298-6470
Fax: 646-859-6870


Turnaround Time:
Results are reported in 3-4 weeks (for postnatal samples) from the receipt of the specimen.

 

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Resources: