Invitae Overgrowth Syndromes Panel
Use
The Invitae Overgrowth Syndromes Panel is designed for genetic testing of genes associated with segmental and/or generalized overgrowth, including macrocephaly. These conditions are genetically heterogeneous, which often complicates diagnosis based solely on phenotype. Testing with this panel allows for an efficient evaluation of several potential genes in a single clinical indication. Some genes on this panel may also be linked to other unrelated disorders, which are not included in this test. It is useful in diagnosing conditions such as Sotos syndrome, Beckwith-Wiedemann syndrome, and Simpson-Golabi-Behmel syndrome, among others.
Special Instructions
This panel is not intended to detect disorders caused by postzygotic mosaicism when performed in DNA from blood, buccal swabs, or saliva. For most accurate and comprehensive results, ensure specimen collection adheres to guidelines. Contact client services for questions regarding specific gene analyses or limitations.
Limitations
Limitations include possible marginally reduced sensitivity for insertions and deletions larger than 15bp but smaller than a full exon. In rare instances, single-exon copy number events may not be analyzed due to inherent sequence properties or data quality issues. Structural rearrangements and variants in complex genetic regions might not be detected. Sequence changes in promoter and other non-coding regions are typically not covered. DNA from certain conditions may not represent the patient's constitutional genome, impacting results.
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)