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Zarqa’s Paeds Panel

About Paeds

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 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.
  • Cases of paediatric patients with complicated clinical features indicating genetic disorders.
  • Patients with clinical symptoms of uncertain origin or suspected hereditary conditions.
  • Patients with complex symptoms suggesting multiple underlying conditions.

List of Pediatric Genetic Disorders
with Genes and Mutations:

Cystic Fibrosis

Mutations in the CFTR gene - vital for healthy lung and digestive system function.

Spinal Muscular Atrophy

Variations in the SMN1 gene - affecting motor neurons and leading to muscle weakness.

Phenylketonuria

Mutations in the PAH gene - causing the buildup of phenylalanine, leading to intellectual disability.

Fragile X Syndrome

FMR1 gene variations - impacting cognitive development and causing intellectual disabilities.

Multiple Endocrine Neoplasia

RET gene mutations - predisposing individuals to tumors in various endocrine organs.

Neurofibromatosis Type 1

Mutations in the NF1 gene - leading to the formation of tumors along nerves and skin.

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 30 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.