General Info

Genetic Diseases Diagnosis Centre

Our Genetic Diseases Diagnosis Centre, with over a decade of experience and equipped with state-of-the-art technology, provides reliable and high-quality clinic and laboratory services. These services are available from the pre-pregnancy phase onwards to diagnose, monitor, and treat all types of hereditary diseases.

Services Offered at Our Genetics Clinic

The clinic provides specialised services for:

• Individuals (children or adults) with rare diseases.
• Suspected genetic disorders in newborns or various muscular diseases.
• Children with growth-development delays or short stature.
• Disorders of sexual development.
• Families with consanguineous marriages planning pregnancy or already pregnant.
• High-risk pregnancies (e.g., ultrasound anomalies or high-risk screening results).
• Recurrent pregnancy losses (two or more miscarriages).
• Infertility or difficulty conceiving.
• Preimplantation genetic diagnosis (PGD, PGS) counselling for embryo analysis during IVF.

Genetic Laboratory Services

Our Genetic Diseases Diagnosis Centre offers comprehensive cytogenetic and molecular genetic test services, tailored for various indications across fields such as hemato-oncology, obstetrics and gynaecology, and paediatrics. These services include:

Whole Exome Sequencing (WES) and NGS Panels

• Analysis of all 23,000 human genes to screen for approximately 7,000 diseases.
• Detailed genetic and clinical evaluation through:
  • Whole Exome Sequencing (WES)
  • Clinical Exome Sequencing (CES)
  • Next-Generation Sequencing (NGS) Panels
• Used for diagnosing genetic, metabolic, or neurometabolic disorders in patients where standard evaluations do not yield results.

Preimplantation Genetic Diagnosis (PGD)

• Genetic screening of embryos for single-gene disorders, such as thalassemia or cystic fibrosis.
• HLA matching for specific diseases.
• Preimplantation Genetic Screening (PGS) to detect chromosomal abnormalities (e.g., Down syndrome) during IVF.

Non-Invasive Prenatal Testing (NIPT)

• Using Next-Generation Sequencing, maternal blood tests can diagnose 44 single-gene disorders such as:
  • Cystic fibrosis
  • Thalassemia
  • Noonan syndrome
  • Osteogenesis imperfecta
• Comprehensive chromosomal analysis of the fetus, including structural and numerical abnormalities.

NGS Test Panels

Our centre offers a variety of NGS panels, including:

• Cancer Genetics Panels:
  • Breast and ovarian cancer
  • Comprehensive screening for hereditary cancers
• Neurological Panels:
  • Neuropathies, neuromuscular diseases, arthrogryposis
• Cardiovascular Panels:
  • Cardiomyopathy, arrhythmias, vascular, and connective tissue disorders
• Endocrinology Panels:
  • Diabetes, obesity, MODY
• Hematology Panels:
  • Bone marrow failure, coagulation deficiencies, thrombosis
• Metabolic Disorders Panels:
  • Glycogen storage disorders, lysosomal storage disorders

This content was developed with contributions from the Medical Park Editorial Board. It is intended for informational purposes only and does not include therapeutic health service-related details. For diagnosis and treatment, always consult your healthcare provider.