Invitae Neurodevelopmental Disorders (NDD) Panel
Use
The Invitae Neurodevelopmental Disorders Panel is designed to analyze genes associated with developmental delay, intellectual disability, and autism spectrum disorder. Because these neurodevelopmental disorders are genetically heterogeneous, the panel provides an efficient evaluation of numerous potentially relevant genes based on a single clinical indication. This test may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. Note that some genes in the panel may also be associated with disorders not included in the tested conditions.
Special Instructions
Preferred specimen is 3mL whole blood collected in a purple-top EDTA tube (K2EDTA or K3EDTA). Alternative specimens that can be accepted include saliva, buccal swab, and gDNA. Invitae is a CAP-accredited and CLIA-certified laboratory.
Limitations
This test analyzes coding exons and select non-coding variants, with limitations primarily for promoter, non-coding regions, structural rearrangements, and variants embedded in complex sequence architectures. Certain types of variants, such as structural rearrangements or complex repetitive sequences, may not be detected. Variants requiring specific phasing or addressing mosaicism may also present challenges. Copy number determination is generally at single exon resolution but could have reduced sensitivity in rare scenarios due to sequence properties or data quality.
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)