BabyMap

The Newborn Screening Test

Read about BabyMap Carrier Screening
 

Newborn Screening (NBS), as the name suggests, is a screening test designed specially for newborns. Traditionally, since its conception in the 1960s, Newborn Screening is done at approximately 24-48 hours after birth. Blood sample, taken via a quick heel prick, goes through a battery of biochemical tests to screen for a select number of serious, inherited metabolic conditions, all of which can be prevented or managed with intervention. In fact, early detection and treatment are pivotal in management of these diseases, with the child usually developing normally and leading a healthy life. However, if these conditions aren’t recognized within a rather small window, it could be too late. Once symptoms appear, they are often irreversible, and beyond the point of intervention treatment; often leading to severe and permanent and irreversible health issues or even death. Biochemical testing, while a good place to start, may not be the best solution.

In biochemical testing, the levels of different biochemicals and other components of the newborn's metabolism are determined from the blood sample. The results of such biochemical testing are greatly affected by:

The time of sampling

Current health of newborn

Medications administered to the infant or the mother

Technique of sample collection

Lack of standardized parameters (some biochemicals are only produced after 48 hours when the baby's metabolism kicks in)

These can lead to stressful false positives and negatives that require rapid confirmatory testing in extremely time-sensitive conditions. Furthermore, many genetic conditions have “late-onset” characteristics, which will not be picked up early via the biochemical test. In these situations, the required interventions aren't incorporated into medical management and children may exhibit disease-related physical manifestations later in life. This is where DNA-based genetic Newborn Screening changes everything!

Why is Newborn Screening Important?

DNA-based Newborn Screening examines the very DNA that codes for enzymes which are responsible for metabolism. It scans through DNA to look for genetic changes that are known to cause inherited conditions. It adds a layer of accuracy and comprehensiveness to traditional biochemical NBS, and, is a powerful tool for early diagnosis and intervention will ensure healthy and normal development.

BabyMap Newborn Screening brings advanced genetic technology to Newborn Screening. Here are a few reasons why BabyMap is the perfect choice for parents who want to be proactive and give their children the best start in life:

DNA Based:
BabyMap analysis the DNA to confirm clinical diagnosis of serious but manageable genetic conditions.
Quick Results:
Since DNA is typically unchanged (compared to fluctuations in levels of biochemicals), BabyMap can be performed immediately after birth. There is no need to wait for 48 hours for the baby's metabolism to kicks in.
Coverage:
BabyMap Newborn Screening tests over 106 genes that are clinically linked to over 171 genetic conditions
Confirmatory Testing:
Since BabyMap is DNA based, it does not require extensive follow-up testing or additional confirmatory testing. It is a genetic test that can be used for screening as well confirmation.

How is it done?

Blood is collected from the infant via a small heel prick.

Blood is spotted on to the filter card.

Once we receive your sample, we extract DNA from the blood.

Your baby’s genetic sequence is the subject to extensive analysis.

And finally...

Your baby’s genetic report is prepared and shared with you. A genetic counselor will be available to discuss your results with you at a time convenient for you.

What are the conditions covered in BabyMap?

BabyMap covers 171 developmental, genetic, and metabolic disorders and conditions

Organic Acid Disorders

  • 3-Hydroxy-3-methylglutaric aciduria (3-hydroxy-3-methylglutaryl-CoA lyase deficiency)
  • Glutaric acidemia Type I
  • Methylmalonic acidemia (methymalonyl-CoA mutase deficiency)
  • Propionic acidemia

Endocrine / Hemoglobin Conditions

  • Congenital adrenal hyperpalsia
  • Primary congenital hypothyroidism
  • Beta thalassemia
  • Sickle cell anemia (S,S Disease)
  • Sickle cell disease (S,C Disease)

Amino Acid Disorder Conditions

  • Benign hyperphenylalaninemia
  • Homocystinuria
  • Hypermethioninemia
  • Maple syrup urine disease
  • Phenylketonuria
  • Tyrosinemia

Fatty Acid Oxidation Disorder Conditions

  • Glutaric acidemia
  • Trifunctional protein deficiency
  • Barth Syndrome
  • Lethal neonatal CPT2 deficiency
  • Systemic primary carnitine deficiency

Other Conditions

  • ADA Severe combined immunodeficiency (Adenosine deaminase)
  • Biotinidase deficiency
  • Cystic fibrosis
  • Nonsyndromic deafness (Hearing loss)
  • X-linked Severe combined immunodeficiency
  • Fabry disease (GLA deficiency)
  • Glucose-6-Phospohate Dehydrogenase Deficiency
  • Mucopolysaccharidosis type 1
  • Niemann-Pick disease
  • X-linked adrenoleukodystrophy

Why Mapmygenome?

Highly cost effective

Quick turnaround time

Over 16 years of experience in Genomics

Latest sequencing platforms

Personalized genetic counseling


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info@mapmygenome.in

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