Invitae Rett and Angelman Syndromes and Related Disorders Panel
Use
The Invitae Rett and Angelman Syndromes and Related Disorders Panel analyzes genes associated with early-onset developmental disorders related to the Rett/Angelman spectrum. These disorders typically present with seizures, developmental delay, speech and language delays, intellectual disability, and variable congenital anomalies. Genetic testing aids in confirming clinical diagnoses, predicting disease progression, and informing genetic counseling. It includes genes curated based on current evidence for the Rett/Angelman spectrum and related disorders.
Special Instructions
This test analyzes full-gene sequencing and deletion/duplication using next-generation sequencing technology. Sequencing covers clinically important regions of each gene. Variants outside these regions are not analyzed. The test achieves >99% analytical sensitivity and specificity for SNVs and indels <15bp. Consult Invitae for more details regarding covered regions and variant types.
Limitations
This assay does not detect uniparental disomy or imprinting center defects. In rare cases, analyzed DNA might not represent the patient's genome, such as in cases of hematopoietic malignancy or bone marrow transplant. Structural rearrangements, sequence changes in non-coding regions, mosaicism, and phasing ambiguity may not be detected. Exons with low-quality data may not be analyzed for copy number changes.
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)