Invitae Metabolic Newborn Screening Confirmation Panel
Use
The Invitae Metabolic Newborn Screening Confirmation Panel analyzes 160 genes associated with various metabolic conditions present in most U.S. newborn screening programs. It is particularly suited for symptomatic infants, premature infants, or babies in neonatal intensive care units where factors such as liver immaturity or total parenteral nutrition could lead to ambiguous results on traditional biochemical-based tests. The genetic testing may confirm suspected diagnoses, aiding in treatment and management decisions. It is not intended for screening healthy, asymptomatic newborns.
Special Instructions
Not provided.
Limitations
While the assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions (deletions/duplications of exon-level), it may have limitations in detecting certain types of variants like structural rearrangements or complex sequence architectures. It may not fully resolve mosaicism, phasing, or mapping ambiguities. Variants outside of sequenced regions are not analyzed, and the analysis may not represent the patient's constitutional genome in rare physiological conditions like recent transfusions or bone marrow transplants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)