Holoprosencephaly Panel, Sequencing and Deletion/Duplication

2008848
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Example Reports
Negative
Positive

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Holoprosencephaly Panel Patient History Form

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Additional Technical Information

Ordering Recommendation

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

Mnemonic

HPE PAN

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3 weeks

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

Lavender or pink (EDTA) or yellow (ACD Solution A or B)

Specimen Preparation

Transport 3 mL whole blood. (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

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/15/2022
X
X
X
X
X
N/A

CPT Codes

81479

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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