Basic Screening

For Primary Newborn Screening Disorders

Nearly 2,800 babies are born every hour in India1. More than 3400 infants a day-suffer from a congenital abnormality2. If left undetected and untreated, these disorders will likely claim most of these young lives by age five3. If detected in the first few days after birth, those infants may be given a healthy start to life.

Primary Newborn Screening

Congenital Hypothyroidism (CH)
DISORDER SCREENED Congenital Hypothyroidism
EFFECT, IF NOT SCREENED Severe mental retardation, intellectual disability and abnormal growth
EFFECT, IF SCREENED AND MANAGED Normal
If treatment begins in the first month after birth
HOW TO MANAGE Daily oral dose of thyroid hormone (thyroxine)
Congenital Adrenal Hyperplasia (CAH)
DISORDER SCREENED Congenital Adrenal Hyperplasia
EFFECT, IF NOT SCREENED Death, muscle wasting and dehydration, hirsutism and abnormal  enlargement of genitals
EFFECT, IF SCREENED AND MANAGED Normal
With medication
HOW TO MANAGE Hydrocortisone/ liquid prednisolone in infancy and childhood Prednisone or Dexamethasone in adults
Glucose 6-Phosphate Dehydrogenase (G6PD) Deficiency
DISORDER SCREENED Glucose 6-Phosphate Dehydrogenase (G6PD) Deficiency
EFFECT, IF NOT SCREENED Severe Anaemia, Prolonged neonatal jaundice, Kernicterus
EFFECT, IF SCREENED AND MANAGED Normal
With dietary and medical restrictions
HOW TO MANAGE Avoidance of drugs and foods that cause haemolysis, vaccination against some common pathogens, medicines to treat infection and sometimes transfusions
Cystic Fibrosis
DISORDER SCREENED Cystic Fibrosis
EFFECT, IF NOT SCREENED Chronic obstructive lung disease, airway infections, gastrointestinal
abnormalities
EFFECT, IF SCREENED AND MANAGED Dramatic improvement in the quality of life with early diagnosis, treatment and diet management
HOW TO MANAGE Treatment includes combined anti-inflamatory and antibiotic therapies along with nutritional supplementation
Galactosemia
DISORDER SCREENED Galactosemia
EFFECT, IF NOT SCREENED Liver damage, brain damage and cataracts, can turn fatal
EFFECT, IF SCREENED AND MANAGED Normal
With dietary and medical restrictions
HOW TO MANAGE Immediate exclusion of dietary galactose
Biotinidase Deficiency
DISORDER SCREENED Biotinidase Deficiency
EFFECT, IF NOT SCREENED Hypotonia, ataxia, seizures, developmental delays, vision/ hearing loss, alopecia, dermatitis
EFFECT, IF SCREENED AND MANAGED Normal
With supplements
HOW TO MANAGE Oral Biotin administration. This treatment is lifelong and highly effective
Phenylketonuria
DISORDER SCREENED Phenylketonuria
EFFECT, IF NOT SCREENED Developmental delays, brain damage, seizures, severe mental retardation, unusual mousy odour
EFFECT, IF SCREENED AND MANAGED Normal
If treatment and appropriate diet begins before four weeks of age
HOW TO MANAGE Phenylalanine-restricted food with proper dietary control under close supervision of the dietician/physician, lifelong

Why PerkinElmer Genomics

With over 700 million babies screened globally since 1994, PerkinElmer Genomics is one of the world’s largest providers of newborn screening services, making it possible for 70 babies every day have a healthy start to life
Thanks to Newborn Screening.

With a menu ranging from single biochemical screening tests to large newborn screening genetic testing panels, we strive to be a one-stop-solution for all of your newborn screening needs. PerkinElmer Genomics is dedicated to improving the lives of families by offering early detection of inherited disorders, and is proud to continue to assist in saving the lives of thousands of babies every year.

We are a complete solution provider – from sample to result with expert interpretation and counseling.

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