Use to evaluate for a molecular etiology of holoprosencephaly (HPE).
Massively Parallel Sequencing
New York DOH Approval Status
Lavender or pink (EDTA) or yellow (ACD Solution A or B)
Transport 3 mL whole blood. (Min: 2 mL)
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
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; FGFR1*; GLI2; PTCH1; SHH; SIX3; TGIF1; ZIC2*
* One or more exons are not covered by sequencing and/or deletion/duplication analysis for the indicated gene; see Additional Technical Information.
|Component Test Code*||Component Chart Name||LOINC|
|2008849||Holoprosencephaly Panel Specimen|
|2008852||Holoprosencephaly Panel Interp|
- middle interhemispheric
- midline anomaly
- single central incisor