Craniosynostosis panel
GTR Test Accession: Help GTR000569078.1
INHERITED DISEASEMUSCULOSKELETALDYSMORPHOLOGY ... View more
Last updated in GTR: 2019-10-09
Last annual review date for the lab: 2023-07-05 LinkOut
At a Glance
Diagnosis
TWIST1-related craniosynostosis; Achondroplasia; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; ...
CD96 (3q13.13-13.2), EFNB1 (Xq13.1), ERF (19q13.2), FGFR1 (8p11.23), FGFR2 (10q26.13), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Offered by: Help
Al Jalila Children's Genomics Center
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
CT004
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
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:
Conditions Help
Total conditions: 20
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 20
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:
Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity - 99.5% Specificity - 99.99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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