Ordering Recommendation

Use to evaluate for a molecular etiology of holoprosencephaly (HPE) in an affected fetus.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation

Fetal Specimen: Two  T-25 flasks at 90% confluent of cultured amniocytes or cultured chorionic villus sampling (CVS).
AND Maternal Whole Blood Specimen
: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks at 90 percent confluent of cultured amniocytes or cultured CVS filled with Culture Media. Backup cultures must be retained at the client's institution until testing is complete.  If ARUP receives a sample below the minimum confluence, CG GRW&SND (0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, CG GRW&SND should be added to initial order. 
Maternal Whole Blood Specimen: Transport 3 mL whole blood. (Min: 1 mL)
New York State Clients: Specimen must be sent overnight to performing laboratory. For specimen requirements and direct submission instructions please contact ARUP Referral Testing at 800-242-2787 ext. 5145.

Storage/Transport Temperature

Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability of cells.
Maternal Specimen
: Room Temperature

Unacceptable Conditions

Cultured Amniocytes or Cultured CVS: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen
: Room temperature: 7 days, Refrigerated: 1 month, Frozen: Unacceptable


Massively Parallel Sequencing




14-21 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

By report

Interpretive Data

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.

Compliance Category

Laboratory Developed Test (LDT)


Determine the etiology of holoprosencephaly in an affected pregnancy or determine if parents of an affected pregnancy are carriers. Chromosome analysis should be performed in an affected pregnancy before ordering this test.

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.

Reported times are based on receiving the two T-25 flasks at 90 percent confluent. Cell culture time is independent of testing turnaround time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination.

Hotline History


CPT Codes

81479; 81265


Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
2008864 Holoprosencephaly Panel Specimen, Fetal
2008867 Holoprosencephaly Panel Interp, Fetal
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


  • alobar
  • butterfly sign
  • cyclopia
  • lobar
  • middle interhemispheric
  • midline anomaly
  • semilobar
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal