Genetics and Precision Medicine Department Programs
- Newborn Screening Program for Metabolic Disorders
The Saudi newborn screening was agreed upon in 13/04/1424 H (13/06/2003) by a Royal Decree No. 3/B/17736 as a collaborative program between Ministry of Health & Prince Salman Center for Disability Research, PSCDR. The program was launched in May 2011. The purpose of this program is to screen all newborns for serious, but treatable hereditary diseases (Inborn Errors of metabolism).
List of Several Disorders Screen by NBS (with pamphlets):
HMG-CoA Lyase Deficiency (HMG)
Isovaleric Acidemia (IVA)
Methylmalonic Acidemia (MMA)
Propionic acidemia
Beta-ketothiolase Deficiency (BKT)
3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
Glutaric Aciduria type-I (GA-I)
Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)
Argininosuccinate Lyase Deficiency (ASL)
Citullinemia (ASS)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Very long-chain acyl-CoA dehydrogenased deficiency (VLCAD)
Galactosemia
Biotinidase Deficiency
Congenital Hypothyroidism (CH)
Congenital Adrenal Hyperplasia (CAH)
Homocystinuria
Tyrosinemia Type 1
- Prevention Genetic Program
A primary prevention program is the early detection of genetic mutations in a fetus with a positive family history of a specific genetic disorder.
We were able to launch this vital program, which improves the quality and safety of our service to our patients. This program was approved by HAC resolution number #04-09(12-15). The aim of this program is to prevent recurrence of genetic disorders in the same family member or their relatives through perinatal genetic screening and premarital genetic screening.