Ordering Recommendation

Use to evaluate for a molecular etiology of holoprosencephaly (HPE).

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
Collect

Lavender or pink (EDTA)  or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)
New York State Clients: 5 mL (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York State Clients: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

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)

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.

Hotline History

N/A

CPT Codes

81479

Components

Component Test Code* Component Chart Name LOINC
2008849 Holoprosencephaly Panel Specimen
2008852 Holoprosencephaly Panel Interp
* 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
  • anopthalmia
  • cyclopia
  • lobar
  • microopthalmia
  • middle interhemispheric
  • midline anomaly
  • proboscis
  • semilobar
  • single central incisor
  • synophthalmia
Holoprosencephaly Panel, Sequencing and Deletion/Duplication