Ordering Recommendation

Determine the etiology of holoprosencephaly in an affected pregnancy. Chromosome analysis should be performed in an affected pregnancy before ordering this test.

Mnemonic
HPE PAN FE
Methodology

Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray

Performed

Varies

Reported

2-4 weeks, if culture is required, an additional 1 to 2 weeks is required for processing time.

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Fetal Specimen: Four T-25 flasks at 80 percent confluent of cultured amniocytes or cultured CVS. If the client is unable to culture, this can be arranged by contacting ARUP Client Services at (800) 522-2787. 
AND Maternal Cell Contamination 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 four T-25 flasks at 80 percent confluent of cultured cells filled with culture media.
Backup cultures must be retained at the client's institution until testing is complete.
AND Maternal Cell Contamination Specimen: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Maternal Cell Contamination Specimen: Refrigerated.

Unacceptable Conditions
Remarks

Reported times are based on receiving the four T-25 flasks at 80 percent confluent. Cell culture time is independent of testing turn-around time. Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services

Stability

Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.

Patient History forms are available online at www.aruplab.com.

Compliance Category

Laboratory Developed Test (LDT)

Note

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**, 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.

Hotline History
N/A
CPT Codes

81479; 81265 Fetal Cell Contamination (FCC)

Components
Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 31208-2
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.
Aliases
  • alobar
  • lobar
  • middle interhemispheric variant
  • semilobar
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal