99 genes cover 71 conditions

Advanced NewbornScreening NBS

Affordable, Accessible Genetic Testing

Why Advanced Newborn Screening?


Early dection of treatable disorders

Prevent medical and cognitive complications

Majority of the conditions screened are treatable

Common Disorders on NBS

  • Do not have any apparent physical features or symptoms
    that would raise a concern.
  • Majority of disorders included in NBS are recessive.
    • Typically no family history.
    • Parents who are carriers would have no features or symptoms.
    • Both parents must be carriers for a child to have the disorder.

How long does it take to get the results?

How is it done?

Best to be done within first 24 hours of life, or anytime after birth on blood from a Heel Prick.
This can also be done for premature babies and using cord blood


1. Heel Prick on blood spot card

2. Blood spot card

3. Samples sent for Next Generation Sequencing(NGS) in Laboratory*

4. Report send to clinic

More information for clinicians

How physicians can use this screening?

A next generation sequencing multiple gene panel that identifies disease causing mutations associated with severe but treatablegenetic disorders


Number of genes
92 genes.

Technology
NGS with high sensitivity and specificity

Disorders
3100 pathogenic markers 71 conditions

Certification
CLIA certified