NBS- Reflex Genetic Testing

LifeCell Diagnostics provide a rapid follow up of genetic testing for abnormal Newborn Screening (NBS) results. By utilizing Sanger/Next Generation sequencing, physicians receive a genetic verification of NBS results within 96 hours** of sample receipt. Rapid genetic reflex testing is the key to rapid diagnostics and initiation of the treatment.

NBS- Reflex Genetic Testing
Pregnancy week by week development stages
Prenatal Yoga DVD by Lara Dutta

Advantages of Integration of Biochemical Test and DNA Based Molecular Genetic Test

  1. DNA is a stable molecule, unhindered by some of the biological concerns that an analyte may face during  a biochemical screening
  2. DNA does not fluctuate with sample collection methods, as seen in the biochemical screening
  3. DNA is also unaffected by the baby’s treatment status – neither TPN nor steroidal treatments will cause any change to the individual’s DNA.

LifeCell Diagnostic’s Common Conditions- With Genetic Reflex

ParametersCoverageMethod
HBB Complete Gene Sequencing Sanger Sequencing
PKU Full Gene Sequencing NGS
Biotinidase Targeted Gene Sequencing Targeted Gene Sequencing
G6PD Targeted Gene Sequencing Sanger Sequencing
GALT Full Gene Sequencing Sanger Sequencing
CAH CYP21A2 Full Gene Sequencing Sanger Sequencing
CFTR Targeted Gene Sequencing Sanger Sequencing
CH Biochemical backup with T4 as per ACMG guidelines
DMD** Deletions Duplication Analysis & Point Mutation MLPA Based & NGS

NBS COMMON CONDITION

NBS COMMON CONDITION

EXTENDED PACKAGE

EXTENDED PACKAGE

NGS SEQUENCING - Metabolic Panel

  • Lysosomal Storage Disorder
  • Peroxisomal Disorder
  • Organic Acidemias
  • AminoAcidopathies
  • Fatty Acid Oxidation Defects
  • Primary Lactic Acidosis
  • Disorder of Carbohydrate Metabolism
  • Urea Cycle Defects

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