Invitae Monogenic Diabetes Panel
Use
The Invitae Monogenic Diabetes Panel offers genetic testing for identifying syndromic and nonsyndromic causes of monogenic diabetes. It is particularly useful for evaluating cases of neonatal diabetes, early onset diabetes, and other genetically heterogeneous forms of diabetes such as MODY, permanent neonatal diabetes, and familial hyperinsulinism. This panel uses next-generation sequencing (NGS) to assess clinically important regions of 28 genes associated with these disorders, thereby facilitating diagnosis and informing clinical management.
Special Instructions
The panel includes full-gene sequencing and deletion/duplication analysis, targeting coding exons and select non-coding variants. Clinicians can customize the test by selecting specific genes, enhancing its utility for focused diagnostic applications. It is important to contact client services for any specific questions regarding the test's limitations or scope.
Limitations
While the assay achieves high sensitivity for single nucleotide variants, smaller deletions, and duplications, the detection of larger insertions, structural rearrangements, and complex variants may be limited. Additionally, analysis of single-exon copy number events can occasionally fail due to sequence properties or data quality issues. Variants in promoter regions or non-coding exons are generally not covered unless specifically mentioned.
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)