Genetic and metabolic disorders are individually rare but collectively constitute a major problem in our communities where the consanguineous marriages are common and the number of patients who are affected in each family is high. Our clinic is dealing with many different diseases related to genetic or metabolic alterations. The diagnosis is based on detailed clinical history, physical examination by experienced team and the diagnosis is confirmed by performing important laboratory tests including urine test for organic acids, plasma test for amino acid, filter paper test for Acylcarnitine profile, enzyme assays, molecular DNA testing, and other specific tests e.g. for Tyrosinemia and Oxalosis. The clinic is an independent facility, as patients can visit directly or in collaboration with King Abdullah University Hospital (KAUH) and Royal Medical Services (RMS). Our clinic has been running for over 7 years, and administrated by a consultant physician in pediatric, genetic and metabolic diseases.

 

The Clinic is open every Sunday (9:00AM-4:00PM).

  

• Diagnosis, counseling and follow up.
• Follow up of lab reports from PHBC.  
• Prenatal diagnosis through CVS samples and antenatal genetic counseling where therapy is available.
• The clinic facilitates graduate research in the fields of diagnosis and treatment of Gaucher’s disease, Familial Mediterranean Fever, mitochondrial diseases, cardiomyopathies, oxalosis, and vitamin D  resistant Rickets.
• Follow up of pre-symptomatic newborn screening for 30 analytes representing many diseases and using very simple filter paper-based analysis