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Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal
Copy Utility
Determine the etiology of holoprosencephaly in an affected pregnancy. Chromosome analysis should be performed in an affected pregnancy before ordering this test.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Varies
2-4 weeks, if culture is required, an additional 1 to 2 weeks is required for processing time.
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).
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)
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.
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
Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
By report
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)
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.
81479; 81265 Fetal Cell Contamination (FCC)
| 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 |
- alobar
- lobar
- middle interhemispheric variant
- semilobar
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