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Newborn Screening Test

Phenylketonuria (PKU)

Test Code: BHT173

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Congenital Adrenal Hyperplasia (CAH)

Test Code: BHT167

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Cystic Fibrosis Test

Test Code: BHC124

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Congenital Hypothyroidism

Test Code: BHT153

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Biotinidase Deficiency

Test Code: BHB015

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IEM Screening from Urine

Test Code: BHN017

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G6PD Deficiency

Test Code: BHT168

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Galactosemia

Test Code: BHG008

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Newborn Screening by TMS

Test Code: BH024P

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Hemoglobinopathies

Test Code: BHH054

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Overview

Newborn screening ensures that all babies are screened for certain serious conditions at birth, and for those babies with the conditions, it allows doctors to start treatment before some of the harmful effects happen..

With a simple blood test, doctors often can tell whether newborns have certain conditions that eventually could cause problems. Although these conditions are rare and most babies are given a clean bill of health, early diagnosis and proper treatment sometimes can make the difference between lifelong impairment and healthy development. There are three parts to newborn screening. A heel stick to collect a small blood sample, pulse oximetry to look at the amount of oxygen in the baby’s blood and a hearing screen.

Why newborn screening is important Diagnosis Sources FAQ

Most of the babies with metabolic disorders look normal at the time of birth. One will never know that the baby has disorder until the onset of signs and symptoms and more often ill effects are irreversible.

Early detection of disorders and conditions
Opportunity to protect baby from the preventable complications of certain undiagnosed medical conditions
Helps to know risk level of developing a disorder
Helps to prevent many metabolic disorders from going undetected in baby
Families having a history of certain genetic diseases, illness or injuries can always go for stem cell banking, because the cold blood which is collected from the baby’s umbilical cord can be used by siblings and parents

Signs and symptoms of chronic kidney disease develop over time as and when the kidney damage progresses slowly:

Pulse oximetry
Blood test
Phenylketonuria (PKU): a condition in which the body cannot break down one of the amino acids founds in protein (amino acid disorders)
Congenital hypothyroidism: thyroid gland; blood spot thyroid stimulating hormone (TSH) or thyroxin (T4) or both can be used for CH screening
Galactosemia: an inherited condition in which the body is unable to properly digest galactose, a sugar found in all foods that contain milk
Sickle cell disease: an inherited condition of the blood (Hb SS)
Biotinidase deficiency: inherited metabolic disorder of biotin (vitamin B) recycling that leads to multiple carboxylase deficiencies
Congenital adrenal hyperplasia (CAH): a group of disorders involving hormones produced by the adrenal gland
Maple syrup urine disease (MSUD): a condition in which the body is unable to break down certain proteins
Tyrosinemia: an inherited condition in which the body is unable to break down certain building blocks of proteins, known as amino acids
Cystic fibrosis (CF): a genetic disorder that affects lungs and digestive system
MCAD deficiency: a condition in which the body is unable to break down certain fats
Severe combined immunodeficiency (SCID): a serious immune system disorder that happens because of lack of both B- and T- lymphocytes in the body
Toxoplasmosis: an infection by a tiny parasite
Hearing screening: hearing loss can be detect early

Newborn Screening

i. How is the newborn screening done?+

ii. How long does it take to get the results of new born screening?+

iii. Which tests included in newborn screening tests?+