New born Screening

  • Nearly 2100 babies are born every hour in India. More than 3400 infants a day – suffer from a congenital abnormality
  • If left undetected and untreated, these disorders will likely claim most of these young lives by age five
  • If detected in the first few days after birth, those infants may be given a healthy start to life

NEWBORN SCREENING: Restoring the right to a healthy childhood

  • Suburban Diagnostics in association with PerkinElmer (a global leader in newborn screening with over 30 years of experience) offers complete Newborn screening range
  • Detects over 50 metabolic disorders
  • Uses VICTOR 2D (time resolved Fluorometry) and MS/MS (Tandem Mass Spectroscopy) delivering high sensitivity and reproducibility of results
  • Complete solution provider – from sample to result with expert interpretation of results
  • Complete solution provider – from sample to result with expert interpretation of results
  • Over 500 million babies screened using PerkinElmer solutions worldwide
Newborn Screening Basic Panel
  • Can detect metabolic conditions after 48 hours of age and within 15 days
  • Sample collection is safe and simple – a heel prick on specially designed DBS card
  • Congenital Hypothyroidism (CH)
  • Congenital Adrenal hyperplasia (CAH)
  • G6PD Galactosemia
  • Cystic Fibrosis (CF)
  • Biotinidase
  • Phenylketonuria (PKU)
Disorder Screened Effected if not screened Effect if screened and managed Management
Congenital Hypothyroidism Severe mental retardation, intellectual disability and abnormal growth Normal – if treatment begins in the first month after birth Daily oral dose thyroid hormone (thyroxine)
Congenital Adernal Hypothyroidism Death, muscle wasting and dehyderation, Hisutism and abnormal enlargement of genitals Normal with medication Hydrocortisone / Liquid prednisolone in infancy and childhood prednisone or Dexamethasone in adults
Glucose -6-phospate Dehydrogenase Deficiency Severe Anaemia, Prolonged neonatal Jaundice, Kernicterus Normal with dietary and medical restrictions Immediate exclusive of dietary galactose
Cystic Fibrosis Chronic obstructive lung disease, airway infections, gastrointestinal abnoramalities Dramatic improvement in the qualities of life with early diagnosis, treatment and diet management Phenylalanine – restricted food with proper dietary control under close supervision of the dietician / physician, lifelong
Biotinidase Deficiency Hypotonia, ataxia, seizures, development delays, vision/hearing loss, alopecia, dermatitis Normal with supplements Oral Biotin adminstration. This treatment is lifelong and highly effective

1 in 1500 to 3000 newborns suffer from Inborn Errors of Metabolism

Newborn Screening: Expanded Panel – Inborn Errors of Metabolism

  • A comprehensive screening program for clinically significant disorders performed using MS/MS (Tandem Mass Spectrometer), the most widely used technique for IEM testing
  • Detects more than 50 disorders which includes
    • 11 Amino Acid disorders
    • 13 Acylcarnitines (Fatty Acid disorders)
    • Organic Acid disorders
    • Hemoglobinopathies
    • Newborn Screening: Basic Panel
Heel Prick Sample Collection Technique