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