Genetic And Rare Diseases
Disease Prevention Approach

Recent technological and scientific advances in DNA testing significantly improved the diagnostic yield in genetic disorders for which genes were unknown and/or genetic testing was not offered before.

Genetic and Rare diseases

We are committed to deliver an accurate diagnosis and specialized genetic consulting for every patient, by providing genetic services tailored to the needs of local population. As genetic disorders can’t be cured, our test will look at genes linked with diseases, and pave the way for prenatal, preimplantation or premarital screening as a personalized disease prevention approach. Safe, fast, accurate blood test. Possibility of fetal gender determination at 10-weeks of pregnancy.

New sequencing technologies are currently revolutionizing the field of genomic diagnostics. They enable geneticists to investigate exomes, genomes and transcriptomes at an unexampled depth and level of detail. The availability of comprehensive genetic services locally:

  • Will avoid an uncertainty for families, not to mention the economic costs of unnecessary diagnostic procedures.
  • Improve patient’s management by clinicians.
  • Improve prophylactic strategies for patients.
  • Will reduce the cost comparing to the price offered by international laboratories.
  • Will address local concerns about privacy and exporting genetic data for commercial purposes (confidentiality of the results).

Clinical Utility

  • Identifying a molecular diagnosis in patients with a known or suspected genetic disorder
  • Better understanding of the natural history/prognosis
  • Targeted management (anticipatory guidance, management changes, specific therapies)
  • Predictive testing of at-risk family members
  • Testing and exclusion of disease in siblings or other relatives
  • Recurrence risk assessment
  • Reproductive decision-making (Couples can identify heritable genetic mutations carried by them to prevent having affected children – PGT- M testing during the IVF)
  • Providing a potentially cost-effective alternative to establishing a molecular diagnosis compared to multiple independent molecular assays.

Technical Utility

  • Targeted sequencing of all coding regions (exome) of the human genome
  • Covering the protein coding regions of 22.000 human genes
  • Containing 85% of all disease causing genetic variants
  • Detection of 50.000 single nucleotide variants (SNV´s) and insertions/deletions (InDels)

Data Analysis

  • Use of in house developed bioinformatic pipeline and filter strategy according to the clinical request or selected gene-panels
  • Evaluation and classification of the genetic variants by analysis of clinical, in silico and in vivo-/in vitro data information, including genomics data base for Arab Diseases
  • Paying attention to variants in the genes recognized and described by King Faisal Specialist Hospital and Research Centre and Center for Arab Genomic Studies)
  • Filtering for variants in genes recommended by American College of Medical Genetics

Genetic Reporting

  • Final genetic report written by certified scientists for human genetics
  • Providing transparent description of data quality and filtering strategy
  • Detailed explanation of association of variants with clinical features
  • Clinical interpretation referring to the given phenotype
  • Secondary findings: detailed description of disease associated variants in genes recommended to be reported by American College of Medical Genetics

Genetic Expertise

  • Providing personalized genetic consultation for challenging, unsolved cases that require specialized expertise in the genetic field.
  • Choosing the best strategies that can lead to better service and improved quality of diagnosis.
  • Selecting an optimal diagnostic strategy for the patients.

Rare and Genetic disorders - How It Works?

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