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
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.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
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