Determine etiology of holoprosencephaly (HPE) or determine if parents of an affected individual are carriers (the affected individual should be tested first, if possible).
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
New York DOH Approval Status
Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required.
Transport 3 mL whole blood. (Min: 1 mL)
Submit the Patient History Form for Holoprosencephaly with the Electronic Packing List.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Patient History forms are available online at www.aruplab.com.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
GENES TESTED: CDON**, DISP1, FGF8, FGFR1**, FOXH1, GLI2, GLI3**, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2*
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
** Deletion/duplication detection is not available for this gene.
|Component Test Code*||Component Chart Name||LOINC|
|2008849||Holoprosencephaly Panel Specimen|
|2008852||Holoprosencephaly Panel Interp|
- middle interhemispheric variant