Craniofacial panel
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000569077.1
INHERITED DISEASEDYSMORPHOLOGYMUSCULOSKELETAL ... 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; Acrodysostosis 1 with or without hormone resistance; ...
ALPL (1p36.12), ALX1 (12q21.31), ALX3 (1p13.3), ALX4 (11p11.2), CD96 (3q13.13-13.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Al Jalila Children's Genomics Center
View lab's website
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
CT003
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.
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: 48
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 48
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
Test Confirmation: Help
For variants classified as uncertain or higher, confirmation is performed by Sanger sequencing.
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

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.