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Craniosynostosis
Clinical Genetic Test
Help
offered by
Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's test page
LinkOut
GTR Test Accession: Help GTR000552209.2
CAP
INHERITED DISEASEMUSCULOSKELETALDYSMORPHOLOGY ... View more
Last updated in GTR: 2017-07-27
View version history
Last annual review date for the lab: 2024-10-24 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (16): Help
Craniosynostosis syndrome; Achondroplasia; Antley-Bixler syndrome more...
Genes (23): Help
ALPL (1p36.12); ALX4 (11p11.2); ASXL1 (20q11.21); EFNB1 (Xq13.1); FBN1 (15q21.1) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's website
View lab's test page
Specimen Source: Help
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Test Order Code: Help
1245
View other test codes
Lab contact: Help
Sarah McCabe, Laboratory Contact
mccabe@ohsu.edu
503-494-5400
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.
How to Order: Help
Customers will need to complete a separate Requisition Form for each patient and include it in the specimen kit provided. Before shipping, please verify that patient information and patient ID number on the form matches that on the specimen.
Order URL
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:
Test strategy, Test development
Conditions Help
Total conditions: 16
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 23
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Follow ACMG Standards and Guidelines for interpreting sequence variants.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, 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
Test Procedure: Help
Pathogenic and likely pathogenic variants are confirmed via Sanger sequencing.
Test Confirmation: Help
Pathogenic and likely pathogenic variants are confirmed via Sanger sequencing.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical validity of this analysis is > 98%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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.