Invitae Elevated Proline (Hyperprolinemia) Panel
Use
The Invitae Elevated Proline (Hyperprolinemia) Panel analyzes genes that are associated with elevations of proline on newborn screening (NBS) or plasma amino-acid analysis. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions.
Special Instructions
Not provided.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. However, insertions and deletions larger than 15bp but smaller than a full exon may have marginally reduced sensitivity. Additionally, structural rearrangements, such as inversions and translocations, or variants embedded in sequence with complex architecture may not be detected. It may also not be possible to fully resolve details about variants, such as mosaicism or mapping ambiguity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
ALDH4A1, PRODH
Gene
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