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New Born Screening

Newborn Screening Panel – 50 Metabolic Disorders by Mass Spectrometry

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth.

Why Newborn Screening?

  • Affected babies are identified quickly before symptoms appear.
  • Cases of disease are not missed.
  • The number of false-positive results is minimized.
  • Early treatment can begin, that prevents the negative and irreversible health outcomes for affected newborns.
  • Most treatments are inexpensive and may involve the addition of a vitamin to the diet, hormone supplementation, avoidance of certain foods and chemicals or dietary changes

Why Early Detection?

It could lead to lifelong complications, such as:

  • Mental Retardation
  • Motor Impairment
  • Physical Disability

Who to Screen NBS?

  • Every Newborn (Routine screening)
  • High Risk
  • Unexplained deaths of siblings
  • Miscarriages & Aborted Fetuses
  • Exhibit symptoms of IEMs
  • Babies conceived by IVF
  • Babies in NICU
  • Sick Children

What to Screen

Acylcarnitine Profile (Tandem Mass Spectrometry)

  • Fatty Acid Oxidation Disorders
  • Organic Acid Disorders

Amino Acid Profile (Tandem Mass Spectrometry)

  • Amino Acid Disorders
  • Urea Cycle Disorders

Biochemical Screening (Enzyme Assay/Enz. immunoassay) :

  • Galactosemia
  • Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia
  • G6PD Deficiency
  • Cystic Fibrosis
  • Biotinidase Deficiency

Blood Sample Collection

Sample: Blood spot is collected in filter paper

Condition:

  • Baby needs to be fed at least 2-3 times before the specimen is taken
  • After 24 hours of birth

TAT : 7 days

Request for callback

Get Your Test Done Today!

For Details, Contact 800 AVIVO (28486)

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