Invitae Kabuki Syndrome Panel
Use
The Invitae Kabuki Syndrome Panel analyzes two genes that are associated with Kabuki syndrome, a pediatric developmental disorder characterized by distinct dysmorphic facial features, developmental delay, and multiple congenital anomalies. Genetic testing can provide an accurate diagnosis, which may help guide medical management and surveillance decisions, predict disease progression and outcome, and indicate the recurrence risk.
Special Instructions
Not provided.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp. However, some structural rearrangements, certain copy number events, and variants embedded in complex sequence architecture may not be detected. Additionally, variants in promoter, non-coding exons, and other non-coding regions are not covered unless explicitly guaranteed.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
KDM6A, KMT2D
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