Invitae Supplemental Metabolic Newborn Screening Panel
Use
The Invitae Supplemental Metabolic Newborn Screening Panel analyzes genes associated with metabolic conditions that are in the differential diagnosis for metabolic newborn screening disorders or may present in the newborn period but are not screened for by U.S. or state newborn screening. This panel includes but is not limited to congenital disorders of glycosylation, Smith-Lemli-Opitz syndrome, carbonic anhydrase VA deficiency, and certain lysosomal storage disorders. It may be appropriate for symptomatic infants, premature infants, or babies in the NICU who have similar clinical symptoms with metabolic newborn screening disorders but have tested negative on the Invitae Metabolic Newborn Screening Confirmation Panel. Testing of these genes may confirm a suspected diagnosis and help guide treatment and management decisions.
Special Instructions
You can customize this test by clicking genes to remove them. Contact client services with any questions regarding regions or types of variants that are covered or excluded for this test.
Limitations
Variants that fall outside the clinically important regions of each gene are not analyzed. Limitations listed on the report include reduced sensitivity for insertions and deletions larger than 15bp but smaller than a full exon. The test may not detect structural rearrangements or variants in sequence with complex architecture. It may not resolve details about mosaicism or phasing, and sequence changes in non-coding regions aren't covered unless specified.
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)
Other tests from different labs that may be relevant