Clinical Analysis

Clinical Chemistry

Clinical analysis testing checks body fluids for the presence of different substances such as glucose, ions, hormones, drugs or toxins.

This test analyzes blood composition and other fluids associated with the diagnosis of disease.

Current tests provided are:                                                             

      - Pyruvate by LC/MS/MS

      - Lactate by LC/MS/MS

      - Ammonia

      - VMA-HVA-5HIAA by GC-MS

      - Metanephrines ,Normetanephrines by LC/MS/MS in blood

      - Metanephrines ,Normetanephrines by LC/MS/MS in urine

      - Vitamins including D3 (Cholecalciferol) and D2 (Ergocalciferol)

      - Catecholamines in urine by LC/MS/MS

      - Homocysteine

      - Urine organic acids

      - Plasma Amino Acids

 

 

 

Neonatal Screening

Neonatal screening testing enables the assessment of newbornsfor congenital genetic or metabolic conditions.

These conditions are often referred to as “inborn errors of metabolism” (IEM) and screened using Tandem Mass Spectrometry.

The around 40 screened diseases are grouped in two categories:

 Screening testing

This test is done for newborns on the first week of birth before symptoms and outcomes of a disease start to show up and covers                                                  

        -Fatty Acid disorders

        -Amino Acid disorders      

        -Organic Acid disorders

        -Hemoglobinopathies test: this disease is based on

         the hemoglobin profile of the patient: Hb S/S,HbS/A

         (Thalassemia), Hb S/C (Cdisease), Glycosylated

          Hb-HbA1c, Hemoglobin electrophoresis.            

        -Glucose-6-Phosphate Dehydrogenase

        -Thyroid Stimulating Hormone (TSH)

        -Galactosemi

        -17 Hydroxyprogesterone (17-OHP)   

 

Click Here to download the Inborn errors of Metabolism Diseases List.

 

Confirmatory and follow up testing

Organic Acid Analysis

Related diseases result from the loss of an enzyme involved in the modifications of amino acid chains, lipids, sugars or steroids.

The laboratory will test for:

      -Urine organic acid

      -Total & free Carnitine

      -Acylcarnitine profile

      -Others

Fatty Acid Analysis

Very long chain Fatty acid oxidation test is routinely carried out in this category.

Amino acid Analysis

This group lacks enzymes that are needed for the metabolism of amino acids.