Holoprosencephaly Panel, Sequencing and Deletion/Duplication

2008848
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Example Reports
Negative
Positive

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Patient History for Holoprosencephaly Nonsyndromic

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Additional Technical Information

Ordering Recommendation

Determine etiology of holoprosencephaly (HPE) or determine if parents of an affected individual are carriers (the affected individual should be tested first, if possible).

Mnemonic

HPE PAN

Methodology

Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray

Performed

Varies

Reported

3-6 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 (EDTA) or yellow (ACD Solution A or B). Peripheral blood required.

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks

Submit the Patient History Form for Holoprosencephaly with the Electronic Packing List.

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**, 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.

Hotline History

N/A

CPT Codes

81228; 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
  • lobar
  • middle interhemispheric variant
  • semilobar
Holoprosencephaly Panel, Sequencing and Deletion/Duplication