SLC26A4-Related Pendred Syndrome
GTR Test Accession: Help GTR000325510.3
ENDOCRINOLOGYSYNDROMIC DISEASEINHERITED DISEASE ... View more
Last updated in GTR: 2018-02-12
Last annual review date for the lab: 2024-02-15 LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Pendred syndrome
Genes (1): Help
SLC26A4 (7q22.3)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
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Ordering Information
Offered by: Help
Test short name: Help
Pendred
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Lab contact: Help
Susan Kirwin, Lab Associate Director
skirwin@nemours.org
302-651-6775
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
Patient samples should be shipped via overnight delivery at room temperature. Each specimen should be labeled with the patient’s name, date of birth, medical record number/unique identifier, and date of sample collection. No weekend or holiday deliveries. Send specimens with a completed sample requisition form, otherwise, specimen processing may be …
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Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
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: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
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
Bi-directional Sanger Sequence Analysis
Applied BIosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
99% accurate by PCR and sequencing
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

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.