New Born Screening Panel Extended

New born screening consists of the multiple ordered steps of blood tests done to look for the relevant evidence of a particular genetic or endocrine order. New born screening is said to have the ability to detect the risk of certain specific diseases, before even the symptoms are shown. Hence, the early detection and treatment of the disorders can prevent chronic illness, spasticity, premature deaths, etc.


 Primary Disorders Included in the New born Screening Panel: 


  1. Biotinidase Deficiency: This is a disorder caused by the lack of a few enzymes, biotinidase. Babies who suffer from this deficiency require the concentration of more biotin (soluble vitamin belonging to the B complex group) than what is needed for any regular baby. Children who suffer from the biotinidase disease may also develop clinical symptoms within the first week of birth. However, the clinical signs are seen any time when the child is between 3 to 6 months of age.

    2. Cystic Fibrosis: 
    A blood test is used to determine the faulty gene that leads to cystic fibrosis. This test is often performed on people who are planning to start a family and have a member in the family who has cystic fibrosis.


  1. G6PD: The genetic abnormality results in the improper amount of G6PD (glucose-6-phosphate dehydrogenase) in the blood. This is known to be an essential enzyme or protein that helps in regulating the multiple biochemical reactions in the body. The process of new born screening panels can diagnose the deficiency. 


  1. Galactosemia: This is the order where galactose does not get broken down in the child's body. Galactose is primarily found in milk products, formulas, breast milk. Under the regulation conditions, galactose gets released by the digestion of lactose and then gets converted to glucose and fructose inside the body. In the case of galactosemia, there is a genetic defect in the galactose's conversation to the glucose.  
  2. 17-Hydroxy progesterone: 17-OHP is a hormoneis made up of the adrenal glands, located right at the top of a kidney. The adrenal glands are responsible for making multiple hormones that include cortisol, which is used for maintaining blood sugar and blood pressure. This could be a genetic disorder, and the symptoms could show post 2-3 weeks of the birth. With the help of the new-born screening process, the disease can be checked way before. 
  3. TSH: Thyroid-stimulating hormone test is a blood test used to evaluate the working of the thyroid gland, located at the lower front of the neck. TSH is produced by the pituitary, a pea-sized gland situated right at the base of the brain. 
  4. Tandem Mass Spectrometry-30disorders: Various disorders such as the Amino acids, Fatty acid oxidation, Organic acids can get tested easily by the Tandem Mass Spectrometer (TMS). 


 Diseases that get detected by TMS:


Aminoacid Disorders: Urea cycle disorders, Hypermethioninemia, Hyperammonaemia, PKU, Homocystinuria, Non-ketotic hyperglycinaemia, etc.


 Organic Acid Disorders: This includes Glutaric academia type 1, 3-ketothiolase deficiency, 3-Methylglutaconyl CoA hydratase deficiency, Beta-Ketothiolase deficiency, Methylmalonic academia with homocystinuria, Isovaleric academia, Multiple carboxylase deficiency.


Fatty acid Oxidation Disorders: This includes Short-chain acyl CoA dehydrogenase deficiency (SCAD), Mitochondrial trifunctional protein deficiency, prolonged chain acyl CoA dehydrogenase deficiency (VLCAD), Carnitine palmitoyl transferase deficiency type 1 (CPT 1)

Almost 5-15% of all the new born babies that are born sick do suffer from metabolic disorder.

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