Whilst most babies are born healthy, some may have an underlying disorder which often goes undetected at birth and may lead to a life threatening situation or cause physical and mental disability, if not detected early. These disorders are called metabolic or genetic disorders. These disorders are rare, but can be harmful, even deadly, when undetected. For example, newborns may have difficulty metabolizing food, placing them at risk for serious health complications such as mental retardation, coma, and even death.


What is Newborn Screening?

Newborn Screening

Newborn Screening is a process where infants are screened shortly after birth for a list of conditions that are treatable, but are often not seen at birth. Newborn screening can prevent hundreds of thousands of instances of physical and mental disability and even death. Early detection of these conditions through Newborn Screening allows timely diagnosis and intervention making it possible to help give affected babies a healthy start to life.

Commonly screened disorders:
Congenital HypothyroidismCongenital Adrenal HyperplasiaGlucose-6-Phosphate Dehydrogenase DeficiencyCystic FibrosisGalactosemiaBiotinidase Deficiency

Why is it essential?

baby-300x157The diseases in question are rare; the probability of your child actually being affected by one of them is rather small. Most babies are born healthy.

Only about 1 in 3 babies receive screening of any type and many babies are only screened for one or two conditions. Over 55,000 more newborns could be saved globally from death or life-altering ailments each year if proper screening tests and treatment were in place. As a result of the newborn screening children who could have been severely affected with a disease are permitted to move forward to a normal healthy childhood.

Early reassurance is considered to be the best option. The choice is completely yours!

Newborn screening can prevent hundreds of thousands of instances of physical and mental disabilities and even deaths.

  • Screening is quick and easy, a simple heel prick is all that’s needed for testing
  • More than 30 conditions are known to have good outcomes when detected and diagnosed early
  • Newborn screening for rare diseases is of economic significance as well. The advantage of early screening is that it offers more time for counseling, consideration and action if the baby is screened positive for a genetic disorder.

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Things parents need to know about newborn screening

  • Screening is quick and easyNewborn Screening
  • Screening tests are performed on dried blood that is collected on filter paper when the newborn is 2 to 28 days old
  • If the screening results are normal, as they are in most cases, no further procedures are needed and parents won’t be contacted
  • If the screening results indicate the possibility of a rare disorder, the family will be contacted without delay so that further procedures can be initiated. A new blood sample to confirm the initial test result is taken from the baby immediately as well, and the newborn is referred for diagnostic testing and/or examination by a specialist

Why PerkinElmer Genomics

Newborn ScreeningPerkinElmer is the global leader in newborn screening. We are engaged in efforts to initiate and consolidate newborn screening programs in various countries, particularly in Asia and Latin America. In India, PerkinElmer is partnering on a project initiated by The Government of India (Indian Council of Medical Research) on newborn screening.

PerkinElmer has screened more than 700 million babies till date, worldwide. Screening has led to the identification and early treatment of some 130,000 babies. Through our efforts, more than 70 infants a day are given a healthy start in life instead of facing disability or death.







Available Testing Options

Newborn screening is a process where infants are screened shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period. Newborn screening is commonly used to screen babies for the following disorders:

  • Biotinidase deficiency
  • Congenital adrenal hyperplasia
  • Congenital hypothyroidism
  • Cystic fibrosis
  • Galactosemia
  • Glucose-6-phosphate deficiency
  • Phenylketonuria

PerkinElmer Genomics offers basic newborn screening panels as well as expanded newborn screening panels. You can discuss with your physician about the various options available. Your physician would be able to recommend what is best for you. Early detection would allow early intervention and management. Babies who receive early treatment can grow up to enjoy long productive lives.

Newborn screening is a predictive test and doesn’t confirm any genetic conditions. Diagnostic tests are offered at the molecular level to enable the study of gene changes associated to the genetic disorder detected. Therefore, based on the results of the newborn screening, a physician may recommend Diagnostic Testing to confirm or rule out conditions.

PerkinElmer Genomics provides pre-test and post-test genetic counseling by trained counselors. Our counselors work extensively with clinicians and also extend their services to patients on case to case basis.

Pediatric counseling is offered when a newborn/child is suspected to be affected with a genetic condition or has a family history of a genetic disorder or is identified with indications such as:

  • Developmental delay
  • Multiple health problems or birth defects
  • Abnormal physical features
  • Metabolic disorders
  • Autism spectrum disorders
  • Family history of a genetic condition
  • Couples having a previously affected child with a birth defect or a genetic disorder

To learn more click here.


At PerkinElmer Genomics, we provide basic screening services to identify different genetic and metabolic disorders in newborns. We have categorized the disorders under very common, common and a panel comprising all major newborn disorders.


PerkinElmer Genomics’ services and materials are not a substitute for medical advice, diagnosis, or treatment. The analyses conducted by PerkinElmer Health Sciences produce results that can be used by qualified physicians in the diagnosis of disorders described herein. Evidence of these conditions will be detected in the vast majority of affected individuals; however, due to genetic variability, age of the patient at the time of specimen collection, quality of the specimen, health status of the patient, and other variables, such conditions may not be detected in all affected patients.

A healthcare professional will draw a small sample of blood by pricking your baby’s heel. The sample is placed on the absorbent filter paper. After the sample dries, the filter paper is sealed in an envelope provided in the kit and sent to PerkinElmer Genomics’ Laboratory for analysis.

Yes, this is a simple and safe test. Blood collection on a filter paper by the heel prick method is the standard procedure of screening newborns in most countries.

After the baby is born, the blood should be collected between 2 days to 28 days of birth.

The testing will be complete approximately three days after the sample arrives at the PerkinElmer Genomics’ Laboratory. Your child’s physician will be notified immediately of any abnormal results by telephone. Results are available to your child’s physician through the reports sent by us. We do not provide results directly to parents.

Newborn Screening determines the risk your baby is at for a metabolic or other inherited disorder. Newborns may not show obvious signs that they have an inherited disorder until after health complications have developed. Early identification can allow your physician to start specialized medical treatment that may improve the long-term health of your baby. If your baby is diagnosed with one of these disorders, early medical intervention can play a key role in helping him or her lead a normal life.

For assistance on any of the above, contact: marketing.dxindia@perkinelmer.com to start PerkinElmer prenatal and/or newborn screening. Call on Toll Free no: 1800-419 1400.

Wish to order a test?

Consult your physician immediately. The screening is performed between 2 – 28 days of birth.