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Holoprosencephaly Panel, Sequencing and Deletion/Duplication
Clinical Genetic Test
Help
offered by
ARUP Laboratories, Molecular Genetics and Genomics
View lab's test page
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GTR Test Accession: Help GTR000515524.11
SYNDROMIC DISEASEINHERITED DISEASEENDOCRINOLOGY ... View more
Last updated in GTR: 2023-07-31
View version history
Last annual review date for the lab: 2024-07-12 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Screening
Conditions (8): Help
Hypogonadotropic hypogonadism 2 with or without anosmia; Holoprosencephaly 11; Holoprosencephaly 2 more...
Genes (8): Help
CDON (11q24.2); FGFR1 (8p11.23); GLI2 (2q14.2); PTCH1 (9q22.32); SHH (7q36.3) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Individuals with a form of holoprosencephaly or carrier testing for …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
ARUP Laboratories, Molecular Genetics and Genomics
View lab's website
View lab's test page
Test short name: Help
HPE PAN
Specimen Source: Help
  • Amniocytes
  • Cord blood
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Test Order Code: Help
2008848
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
How to Order, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 8
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Target population: Help
Individuals with a form of holoprosencephaly or carrier testing for those who have relatives with holoprosencephaly
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical sensitivity is approximately 99 percent for single nucleotide variants (SNVs) and greater than 93 percent for insertions/duplications/deletions (indels) from 1-10 base pairs in size. Indels greater than 10 base pairs may be detected, but the analytical sensitivity may be reduced. Deletions of 2 exons or larger are detected … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.