Holoprosencephaly Panel, Sequencing and Deletion/Duplication
Also known as: HPE PAN
Use
The Holoprosencephaly Panel, Sequencing and Deletion/Duplication, is intended to evaluate the genetic etiology of holoprosencephaly (HPE), which originates from failed midline delineation during early embryonic development, leading to the prosencephalon's partial or complete failure to divide into hemispheres. This comprehensive test examines genes closely associated with HPE subtypes, which are characterized by varying degrees of brain separation and can include craniofacial anomalies. The test aims to identify pathogenic germline variants that could contribute to the condition, thereby assisting in diagnosis and informing patient management.
Special Instructions
Specimens from New York clients will be sent to a state-approved laboratory. Counseling and informed consent are recommended for genetic testing. Consent forms are available online. Transport whole blood specimens refrigerated and ensure the stability requirements are met. New York State clients require special specimen preparation.
Limitations
This test does not detect regulatory region variants, deep intronic variants, low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions. Variants can only be detected within the coding regions and intron-exon boundaries of targeted genes. Single exon deletions/duplications may not always be detected due to technical limits, and the precise breakpoints for large deletions or duplications are not determined. Diagnostic errors can occur due to rare sequence variations, and the presence of pseudogenes or homologous regions might affect variant identification.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B). For New York State: Lavender (EDTA)
Storage Instructions
Refrigerated transport
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |