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POU3F4 Gene Sequencing
Clinical Genetic Test
Help
offered by
Laboratory for Molecular Medicine
GTR Test Accession: Help GTR000509151.6
EAR, NOSE, THROATPSYCHIATRICNERVOUS SYSTEM ... View more
Last updated in GTR: 2020-01-15
View version history
Last annual review date for the lab: 2023-12-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
X-linked mixed hearing loss with perilymphatic gusher
Genes (1): Help
POU3F4 (Xq21.1)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
Target population: Help
Individuals with a mixed hearing loss, dilation of IAC and …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Laboratory for Molecular Medicine
View lab's website
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
lmPOU3F4-a_L
View other test codes
Lab contact: Help
Sami Amr, PhD, FACMG, Lab Director
samr@partners.org
617-768-8500
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
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Test strategy: Help
Sequencing of the POU3F4 gene is recommended for males with hearing loss and identification of stapes fixation and perilymphatic gusher. Testing for POU3F4 may be indicated in a family with an X-linked pattern of nonsyndromic hearing loss, a history of vestibular problems, or temporal bone abnormalities associated with POU3F4 related … View more
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
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
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Individuals with a mixed hearing loss, dilation of IAC and abnormally wide communication between IAC and inner ear compartment, perilyphatic gusher on stapedectomy, and suspected X linked pattern of inheritance
View citations (2)
  • Shearer AE, Hildebrand MS, Schaefer AM, Smith RJH. Genetic Hearing Loss Overview. 1999 Feb 14 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. PMID: 20301607.
  • Molecular diagnosis of hearing loss. Brown KK, et al. Curr Protoc Hum Genet. 2012;Chapter 9:Unit 9.16. doi:10.1002/0471142905.hg0916s72. PMID: 22241658.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
All VUS's are reported

Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes. *Please call. Offered on a case-by-case basis.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. Ordering provider is encouraged to periodically contact the lab to see if there is any new information available. However, if the ordering physician has GeneInsight Clinic, they may receive automatic updates on classification through that program.
Research:
Is research allowed on the sample after clinical testing is complete? Help
No
Recommended fields not provided:
Clinical validity, Clinical utility, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
This test is greater than 99.9% accurate in detecting variants in the sequence analyzed.
View citations (1)
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
VUS:
Software used to interpret novel variations Help
Alamut, UCSC Genome Browser, ExAC, ESP, 1000 Genomes, PolyPhen, SIFT, AlignGVGD, and more.

Laboratory's policy on reporting novel variations Help
All novel VUS's are reported
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
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.