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Zarqa’s Cardio Panel

About Cardio

Welcome to Zarqa Genomics Lab (ZGL), your trusted ally in unraveling the mysteries encoded within your patients’ DNA. As a premier genomics laboratory, we specialize in the sequencing and interpretation of genomic data to provide unprecedented medical insights.

Our Services

At ZGL, our primary focus is on conducting comprehensive whole exome and whole genome tests, delivering intricate details about genetic variants that exert influence over your patients’ health. Through the application of cutting-edge technology and expert analysis, we shed light on the complex pathways of genetic makeup, equipping you with the knowledge needed to make informed decisions for your patients’ well-being.

Whole genome sequencing (WGS)

Stands as an advanced genetic analysis technique gaining recognition as the preferred first-line genetic test in routine clinical settings. It transcends the limitations of targeted tests by encompassing coding and non-coding regions, along with mitochondrial DNA (mtDNA), thus offering a holistic view of your patients’ genetic landscape and optimizing diagnostic value.

Whole exome sequencing (WES)

Presents a comprehensive approach, meticulously sequencing the exons of all protein-coding genes alongside thousands of known disease-causing variants and the mitochondrial genome. With WES, potential disease-causing variants overlooked by previous tests can be identified. Despite representing only 1-2% of the human genome, the exome harbors approximately 85% of known disease-related variants.

Features

  • Transform Patient Management: Diagnostic findings can yield tangible changes in patient management for up to 55- 77% of patients.
  • Shorten Diagnostic Journey: It holds significant potential in curtailing the diagnostic odyssey for neonates and paediatric patients with suspected genetic diseases.
  • Cost-Effective Solution: as a primary diagnostic tool, offers cost-effective solutions for patients suspected of rare diseases compared to alternative genetic tests.
  • Supported by Guidelines: Endorsed by the Medical Genome Initiative and integrated into clinical practice guidelines by the ACMG and ESHG, it is recommended as a primary diagnostic tool for suspected rare genetic diseases.

Who Can Benefit?

  • Patients with broad, unspecific, or overlapping phenotypic features suggestive of potential cardiovascular genetic disorders.
  • Pediatric patients presenting with complex clinical features indicative of underlying genetic conditions affecting the cardiovascular system.
  • Patients exhibiting clinical symptoms of uncertain origin or suspected hereditary cardiovascular conditions, warranting comprehensive genetic evaluation.
  • Individuals who remain undiagnosed following single-gene or targeted panel testing for cardiovascular disorders, necessitating a more extensive genetic analysis.
  • Patients manifesting complex symptoms indicative of multiple underlying cardiovascular conditions, requiring thorough genetic scrutiny.
  • Suspected cases of genetic cardiovascular disorders where genetic testing serves as the first-line diagnostic approach.
  • Healthy individuals with a family history of cardiovascular genetic diseases, seeking proactive genetic testing for risk assessment and early intervention.
  • Healthy individuals interested in obtaining carrier status information for family planning purposes, particularly in the context of potential cardiovascular genetic disorders.

Unveiling the Genetic Basis:
A Genomic Atlas of Cardiovascular Disorders

Hypertrophic Cardiomyopathy (HCM)

NGS scrutinizes genes such as MYH7, MYBPC3, and TNNT2, shedding light on genetic variations associated with HCM

Long QT Syndrome (LQTS)

Genes including KCNQ1, KCNH2, and SCN5A undergo comprehensive analysis, offering insights into LQTS-related mutations.

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC):

NGS explores genetic markers within desmosomal genes like PKP2, DSP, and DSG2, unraveling the genetic underpinnings of ARVC.

Congenital Heart Defects

Genetic investigations focus on genes like NKX2-5, GATA4, and TBX5, contributing to a deeper understanding of congenital heart defects

Brugada Syndrome

SCN5A mutations and other genetic variants are examined through NGS, offering insights into the predisposition to Brugada Syndrome

Dilated Cardiomyopathy (DCM)

NGS delves into genes such as LMNA, TNNT2, and MYH7, providing a molecular understanding of DCM pathology

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

RYR2 and CASQ2 genes are scrutinized, revealing genetic variations associated with CPVT susceptibility

Short QT Syndrome (SQTS)

Genetic analysis targets genes like KCNH2 and KCNQ1, unraveling the genetic fabric underlying SQTS manifestations

Familial Timothy Syndrome

CACNA1C gene mutations are explored through NGS, offering insights into the genetic basis of Timothy Syndrome

Hereditary Arrhythmia Syndromes

Comprehensive genetic investigations encompass genes such as SCN5A, KCNQ1, and KCNH2, elucidating various hereditary arrhythmia syndromes

Hereditary Hemorrhagic Telangiectasia (HHT)

Genetic analysis of genes like ENG and ACVRL1 provides a molecular understanding of HHT

Heterotaxy Syndrome

NGS explores genes like ZIC3 and NODAL, contributing to a deeper understanding of heterotaxy syndrome

Hypertriglyceridemia

Genetic scrutiny of APOC2, LPL, and APOA5 genes reveals insights into the genetic basis of hypertriglyceridemia

Dolichoectasia

Genetic investigations focus on genes such as COL4A1, COL4A2, and COL3A1, contributing to a deeper understanding of dolichoectasia

Hypomagnesemia

NGS explores genes associated with magnesium homeostasis, shedding light on the genetic factors contributing to hypomagnesemia

Report and Potential Outcomes

  • Primary findings: Genetic variants directly pertinent to the reason for testing.
  • Incidental findings: Genetic variants with potential health implications unrelated to the testing rationale.
  • Identification of variants explaining the disorder, potentially guiding treatment decisions and assessing familial risk.
  • Identification of variants possibly explaining the disorder, necessitating further testing, including family members.
  • Non-identification of variants explaining the condition, which may not conclusively rule out a genetic condition due to potential undiscovered genes or variants.

Sample types: saliva, blood, DBS cards, isolated DNA

TAT: All samples are processed within 45 working days

Zarqa Genomics is committed to empowering healthcare professionals like you with invaluable genetic insights to enhance patient care and improve health outcomes. Partner with us on the journey to personalized medicine and transformative healthcare solutions.