Invitae Overgrowth and Macrocephaly Syndromes Panel
Use
The Invitae Overgrowth and Macrocephaly Syndromes Panel is designed to identify genetic variants associated with overgrowth and macrocephaly syndromes. These syndromes are characterized by excessive growth in weight and/or length, which may be symmetric or localized, such as in macrocephaly or hemihypertrophy. Identifying a disease-causing variant can guide treatment, management decisions, and genetic counseling by confirming a diagnosis and informing recurrence-risk assessment.
Special Instructions
New York approved. Preferred specimen type is 3mL whole blood in a purple-top EDTA tube. Alternative specimens include saliva, buccal swab, and genomic DNA (gDNA). Turnaround time averages 14 days but ranges from 10 to 21 calendar days.
Limitations
The panel utilizes next-generation sequencing technology to cover clinically important regions of each gene, including coding exons and adjacent intronic sequences. It may not cover sequence changes in promoter regions, non-coding exons, or other non-coding areas. Some structural rearrangements and single-exon copy number changes might not be detected if affected by complex sequence architecture or data quality issues. Additionally, mosaicism, phasing, or mapping ambiguity might not be fully resolved. DNA from blood may not represent the patient's constitutional genome in cases like bone marrow transplant.
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)