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Neonatal Screening
The addition of a newborn to a family is always a turning point in life. As soon as you become pregnant the health of your child becomes more important than anything else. For the best possible start in life, the first step begins with MedLabs' Newborn Screen – the only one of its kind in Jordan and overseen by an experienced and highly qualified specialist for result


What Is Newborn (Neonatal) Screening?
A Newborn Screen is a simple test carried out during the first 14 days of a baby's life. The test is designed to screen for various metabolic disorders that can be treated and managed effectively as a result of early detection.


How Are The Tests Carried Out?
The screening test itself requires nothing more than a couple of drops of blood from your baby's heel - a process that is carried out by a qualified nurse or health professional. The samples are then sent to the lab for testing.


Why Perform A Neonatal Screen?
Babies born with biological abnormalities screened for through this test appear normal at birth. However, if an abnormality exists and is not detected and treated, the baby could suffer serious physical and mental defects and in some cases even death. If the abnormality is detected early, these effects can be avoided and the child could go on to lead a relatively normal and healthy life.

 

 

Amino Acid Disorders

Phenylketonuria (PKU)

Maple Syrup Urine Disease (MSUD)

Homocystinuria

Tyrosinemia Type I

Tyrosinemia Type II

Tyrosinemia Type III

Argininosuccinic Aciduria

Citrullinemia (Argininosuccinic Synthetase Deficiency)

Argininemia

Histidinemia

Hyperornithinemia

Hyper/Hypomethioninemia

5-Oxoprolinuria (Pyroglutamic Aciduria)

 

Fatty Acid Disorders

Carnitine Palmytoyltransferase Deficiency Type I

Carnitine Palmytoyltransferase Deficiency Type II

Carnitine / Acylcarnitine Translocase Deficiency (CACT)

Carnitine Uptake Deficiency (CUD)

Trifunctional Protein Deficiency

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)

Long Chain 3-Hydroxy Acyl –CoA Dehydrogenase Deficiency (LCHADD)

Medium Chain Acyl – CoA Dehydrogenase Deficiency (MCADD)

3-Hydroxy Acyl –CoA Dehydrogenase Deficiency (M/SCHADD)

Short Chain Acyl-CoA Dehydrogenase Deficiency (SCADD)

Glutamic Aciduria Type II (MADD)

Ethylmalonic Aciduria

2,4 Dienoyl – CoA Reductase Deficiency  

 

Organic Acid Disorders

Malonic Aciduria

Osovaleric Aciduria

Propionic Aciduria

Glutaric Aciduria Type I

Methylmalonic Aciduria

Β-Ketothiolase Deficiency

3- Methylcrotonyl-CoA Carboxylase Deficiency

3- Hydroxy – 3 Methylglutaryl – CoA Lyase Deficiency

Multiple –CoA Carboxylase Deficiency

Maternal Vitamin B12 Deficiency

Isobutyryl – CoA Dehydrogenase Deficiency

2-Methylbutyryl – CoA Dehydrogenase Deficiency

2- Methyl-3- Hydroxy butyryl – CoA Dehydrogenase Deficiency

 

Other Disorders

Hemoglobinopathies (Including S,C,D,E & O Arab)

Cystic Fibrosis (IRT)

Congenital Adrenal Hyperplasia (17 – Hydroxyprogesterone)

Galactosemia (Total Galactose)

Galactose – 1 – Phosph Uridyl Transferase enzyme activity

Glucose – 6 – Phosphate Dehydrogenase (G6PD) Deficiency

Congenital Hypothyroidism (TSH)

Biotinidase Deficiency


New Disorders

X – Linked Adrenoleukodystrophy (X-LAD)

ADA-SCID, Adenosine Deaminase Deficiency (ADAD)

Argininosuccinic Acid Lyase Deficiency (ASA-LD)

Ornithine Transcarbamylase Deficiency (OTCD)

Carbamoyl Phosphate Synthase 1 (CPS-1)

N-Acetylglutamate Synthase (NAGS)

 

 

Methodology

The Metabolic Disorders Department at MedLabs is equipped with the latest state-of-the-art technology designed for Neonatal Screening, which includes the use of:

·        LC- MS/MS (Tandem) Mass Spectrometry

·        Victor2D DELPHIA System

·        Isoelectric Focusing (IEF) Gel Electrophoresis

·        Bar-Coded Sample Tracking System