Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal
2008863
Ordering Recommendation

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
 
** Deletion/duplication detection is not available for this gene.

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.
ARUP Consult®
Disease Topics
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.

Statement C: 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.

Note
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.

GENES TESTED: CDON**, DISP1, FGF8, FGFR1**, FOXH1, GLI2, GLI3**, NODAL, PTCH1, SHH, SIX3, TGIF1, ZIC2
 
** Deletion/duplication detection is not available for this gene.
Hotline History
View Hotline History
CPT Code(s)
81479; 81265 Fetal Cell Contamination (FCC)
Components
Component Test Code*Component Chart NameLOINC
0050548Maternal Contamination Study Fetal Spec59266-7
0050612Maternal Contam Study, Maternal Spec31208-2
2008864Holoprosencephaly Panel Specimen, Fetal
2008867Holoprosencephaly 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 view this test within the Laboratory Test Directory found at www.aruplab.com
Aliases
  • alobar
  • lobar
  • middle interhemispheric variant
  • semilobar