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Zarqa’s Thalesemia Panel

About Thalesemia

Welcome to Zarqa Genomics Lab (ZGL), your trusted ally in unravelling 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

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. Despite representing only 1-2% of the human genome, the exome harbours approximately 85% of known disease-related variants.

Features

  • Transform Patient Management: Diagnostic findings can yield tangible changes in patient management.
  • 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.

Who Can Benefit?

  • Individuals presenting with microcytic anemia, which may indicate underlying thalassemia.
  • Patients with relatives diagnosed with thalassemia, seeking genetic testing for risk assessment and carrier status.
  •  Paediatric patients with unexplained anemia or suspected hereditary hemoglobinopathies.
  • Couples Planning a Family: Prospective parents undergoing carrier screening to assess the risk of passing thalassemia to their offspring.
  • Healthy Individuals Seeking Genetic Insights: Those looking for information about their carrier status or genetic predisposition to thalassemia for personal knowledge or family planning.

Unveiling the Genetic Basis:
Basis of Thalassemia Disorders

Alpha Thalassemia

NGS scrutinizes HBA1 and HBA2 genes, providing insights into the genetic variations causing alpha thalassemia.

Beta Thalassemia

Examination of mutations in the HBB gene reveals the genetic underpinnings of beta thalassemia.

Delta-Beta Thalassemia

NGS explores deletions or mutations in both the HBB and HBD genes to elucidate the genetic foundation of delta-beta thalassemia.

Hemoglobin E/Beta Thalassemia

Genetic analysis of HBB gene mutations and their interaction with hemoglobin E variants helps in understanding this complex disorder.

Hemoglobin H Disease

NGS targets HBA1 and HBA2 gene deletions and point mutations that contribute to hemoglobin H disease.

Cooley's Anemia (Severe Beta Thalassemia)

Comprehensive analysis of HBB gene mutations reveals the genetic causes of this severe form of beta thalassemia.

Additional Services

Non-Invasive Prenatal Testing (NIPT), Genetic Carrier Screening, BRACA1/ BRACA2 Gene Panel, Paternity Testing, Sanger Sequencing Validation, Genetic Counseling, services of clinical scientist for choosing test, analyses on raw data, reanalyses on analysed report for deeper insights.

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.