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.
Advantages of Integration of Biochemical Test and DNA Based Molecular Genetic Test
- DNA is a stable molecule, unhindered by some of the biological concerns that an analyte may face during a biochemical screening
- DNA does not fluctuate with sample collection methods, as seen in the biochemical screening
- 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
| Parameters | Coverage | Method |
|---|---|---|
| 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
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