Holoprosencephaly Panel, Sequencing and Deletion/Duplication

Also known as: HPE PAN

Clinical Use

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

Not provided.

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.

Test Details