Craniofacial Panel
GTR Test Accession: Help GTR000553472.2
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2023-02-08
Last annual review date for the lab: 2023-09-29 LinkOut
At a Glance
Diagnosis; Pre-symptomatic; Risk Assessment; ...
Nager syndrome; Acrodysostosis 2 with or without hormone resistance; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; ...
ALPL (1p36.12), ALX1 (12q21.31), ALX3 (1p13.3), ALX4 (11p11.2), CD96 (3q13.13-13.2), ...
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Not provided
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Ordering Information
Offered by: Help
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics
View lab's website
View lab's test page
Specimen Source: Help
Test Order Code: Help
CRANX
CPT codes: Help
**AMA CPT codes notice
Lab contact: Help
DGD GeneticCounselor, Genetic Counselor
DGDGeneticCounselor@chop.edu
How to Order: Help
Each specimen must be accompanied by a physician's test request. Informed consent is desirable. Proper billing information should also be provided on the test requisition form.
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 47
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 44
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; Pre-symptomatic; Risk Assessment; Screening
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity for sequencing and copy number variants is ~99%.  It may be lower for technically difficult genomic regions.  Please see our test menu entry for test-specific information.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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