Invitae Holoprosencephaly Panel
Use
The Invitae Holoprosencephaly Panel analyzes up to 10 genes associated with holoprosencephaly, a range of brain malformations resulting from incomplete development of the brain early in gestation. Genetic testing of these genes may confirm a diagnosis and guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Special Instructions
Not provided.
Limitations
Based on validation studies, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp. Detection of larger insertions and deletions may have marginally reduced sensitivity. Some structural rearrangements, such as inversions or translocations, and variants in complex regions might not be detected. Single-exon copy number events may not be analyzed due to sequence properties or data quality issues.
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)