Invitae Rubinstein-Taybi Syndrome Panel
Use
The Invitae Rubinstein-Taybi syndrome test analyzes two genes associated with Rubinstein-Taybi syndrome (RSTS), a multisystem disorder characterized by short stature, recognizable facial features, broad thumbs and great toes, and moderate to severe intellectual disability. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Special Instructions
Not provided.
Limitations
This assay may not detect certain types of variants such as structural rearrangements or variants embedded in complex sequence architecture. Sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered unless explicitly guaranteed. Single-exon copy number events may not be analyzed due to inherent sequence properties. The analyzed DNA may not represent the patient's constitutional genome in cases like recent blood transfusion.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
CREBBP, EP300
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