Connect Sign In
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal
Ordering Recommendation
Use to evaluate for a molecular etiology of holoprosencephaly (HPE) in an affected fetus. Maternal cell contamination (MCC) analysis is required and performed at no additional charge. Order Maternal Cell Contamination, Maternal Specimen (0050608) on a maternal blood specimen.
For guidance on ordering maternal cell contamination studies, please refer to Maternal Cell Contamination (MCC) Analysis Guide.
New York DOH Approval Status
Specimen Required
Fetal Specimen: Cultured amniocytes OR cultured chorionic villi.
Maternal Specimen: Refer to Maternal Cell Contamination, Maternal Specimen (0050608) for maternal specimen requirements.
Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks of 90 percent confluent cultured amniocytes or two T-25 flasks of 90% cultured chorionic villi sampling (CVS).
This assay is not performed on direct amniotic fluid or direct chorionic villi specimens. Clients submitting direct amniotic fluid and direct chorionic villi must add Cell Culture for Genetic Testing (3020627) to the initial order.
If ARUP receives cultured specimens below the minimum confluence, Cell Culture for Genetic Testing (3020627) will be added by ARUP for an additional fee. The client is responsible for maintaining backup cultures.
Cultured Amniocytes or Cultured CVS: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to viability of cells.
Patient history forms and informed consent documents are available by selecting the links above or by contacting ARUP Client Services. Counseling and informed consent are recommended for genetic testing. New York Clients: Informed consent is required with specimen submission.
Cultured Amniocytes or Cultured CVS: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
Notes: Cell culture time is independent of testing turnaround time. Reported times are based on receiving the two T-25 flasks at 90 percent confluency. If cell culture is required at ARUP, an additional 1 to 2 weeks is required for processing time.
Reference Interval
Refer to report
Interpretive Data
Refer to report.
Laboratory Developed Test (LDT)
Note
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.
Chromosome analysis, with or without reflex to genomic microarray, should be performed for the affected pregnancy before ordering this test.
Hotline History
Hotline History
CPT Codes
81479; 81265
Components
| 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 |
Aliases
- alobar
- butterfly sign
- cyclopia
- lobar
- middle interhemispheric
- midline anomaly
- semilobar
