Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome Panel
Use
This test is designed for individuals with relevant clinical features or a family history of Rubinstein-Taybi syndrome or Floating-Harbor syndrome. It aids in the genetic diagnosis of these syndromes by identifying disease-causing mutations in a set of three genes associated with these conditions.
Special Instructions
The panel is available on both the Exome and Genome platforms, with a STAT testing option available for expedited processing. Testing must be ordered by a qualified healthcare provider, and specimens should be labeled and sent alongside the necessary clinical information for interpretation.
Limitations
This test is limited by its reliance on the genes included in the panel and may not identify mutations in less-known or newly discovered genes related to Rubinstein-Taybi or Floating-Harbor syndrome. Negative results do not rule out these conditions, and variants of uncertain significance may require further familial studies for interpretation.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided