Inherited metabolic disorders (IMDs) are a group of over 200 single gene disorders primarily inherited as autosomal recessive traits (i.e., father and mother are obligate carriers). IMDs are relatively common in children of Saudi Arabia and throughout the Middle East, presumably due to the thigh rates of consaguinity. Many of these disorders carry serious clinical consequences for the affected neonates or young infants, which include mental retardation, physical handicap, or death. Many of these diseases are, however, treatable with simple dietary measures provided they are rapidly and accurately diagnosed.

Metabolic profiling of patients’ body fluids such as blood, urine, CSF, is the key to precise diagnosis of many IMDs. For this purpose separation and sensitive detection techniques such as gas and liquid chromatography (GC & HPLC) alone, or combined with mass spectrometry (GC/MS & LC/MS) are needed. The introduction of tandem mass spectrometry (MS/MS), a highly sensitive, specific and rapid analytical technique made it possible to screen blood spots from newborns for diagnosing more than 25 diseases within minutes.

Diagnostic Services

The Metabolic Screening Laboratory (MSL) is internationally recognized for its contributions to the development of high throughput MS/MS methodologies for metabolic screening, for new approaches to sample preparation, and for the development of computer algorithms for data interpretation. Our diagnostic services stemmed from our research efforts in the field of inherited metabolic diseases and mass spectrometry for a period of over ten years, and is backed up by solid biochemical, analytical, and clinical expertise.

MSL is concerned with both selective and newborn screening (NBS). The former is essentially diagnostic testing for sick children suspected of having a metabolic disease or high-risk patients with family history, while the latter is aimed at the early detection of cases before the onset of metabolic derangement.

An automated tandem MS method developed at KFSH&RC is currently used to profile and quantify a large number of amino acids and acylcamitines in blood spots and is backed up by other GC/MS, LC/MS, LC/MS/MS, and HPLC methods for confirmation purposes. This approach enables us to analyze hundreds of samples per day, thus providing a cost-effective facility for NBS for a large number of disorders with the ultimate goal of reducing morbidity and mortality of the children of Saudi Arabia and the Middle East. Our MSL database active since 1994 has records for all samples received and reports issued during that period and allows us to quickly answer queries from referring physicians.

MSL currently provides selective screening services for over 150 hospitals, polyclinics in Saudi Arabia, Gulf countries, and other Middle Eastern countries. We offer newborn screening packages for interested parties at a discounted rate and we can tailor our methodology to cover specific disorders of interest to our customers. Currently we provide tests for the following:

Tests Reports

We strive to provide a rapid turnaround time for our assays while providing reliable and accurate results. Reports for our screening tests are sent by fax or mail to referring hospitals or clinics. We also offer password-protected access to each hospital results via the Internet. Our MSL website provides more detailed information about the clinical utility of each of the tests, turnaround time, type of samples required.

Unit Facility

MSL is a state-of-the-art facility located in the Research Centre of King Faisal Specialist Hospital. Our laboratory is equipped with Fisons Quattrol and Micromass QuattrolC tandem mass spectrometers, Hewlett-Packard and ThermoFinnigan gas chromatography mass spectrometry instruments, two HPLC systems with UV, diode array, and fluorescence detectors.