Classic view of this page
Waardenburg syndrome
Clinical Genetic Test
Help
offered by
Al Jalila Children’s Genomics Center
View lab's test page
LinkOut
GTR Test Accession: Help GTR000569103.1
INHERITED DISEASEDYSMORPHOLOGYSYNDROMIC DISEASE ... View more
Registered in GTR: 2019-10-09
View version history
Last annual review date for the lab: 2024-07-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (7): Help
Waardenburg syndrome type 1; ABCD syndrome; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness more...
Genes (6): Help
EDN3 (20q13.32); EDNRB (13q22.3); MITF (3p13); PAX3 (2q36.1); SNAI2 (8q11.21) 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
Al Jalila Children’s Genomics Center
View lab's test page
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
ENT002
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
Order URL
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:
Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 6
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:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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:
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.