Genetics and Precision Medicine Department Programs

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):

1. HMG-CoA Lyase Deficiency (HMG)
2. Isovaleric Acidemia (IVA)
3. Methylmalonic Acidemia (MMA)
4. Propionic acidemia
5. Beta-ketothiolase Deficiency (BKT)
6. 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
7. Glutaric Aciduria type-I (GA-I)
8. Phenylketonuria (PKU)
9. Maple Syrup Urine Disease (MSUD)
10. Argininosuccinate Lyase Deficiency (ASL)
11. Citullinemia (ASS)
12. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
13. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
14. Galactosemia
15. Biotinidase Deficiency
16. Congenital Hypothyroidism (CH)
17. Congenital Adrenal Hyperplasia (CAH)
18. Homocystinuria
19. 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.