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Paediatric Laboratory Medicine

Hereditary Hearing Loss: Usher Syndrome

Background

See related pages for information sheets on Hereditary Hearing Loss: Usher syndrome

Clinical Significance

See related pages for information sheets on Hereditary Hearing Loss: Usher syndrome

Test Name

Hereditary Hearing Loss: Usher Syndrome

Alternate Name/ Synonym

HHL: Usher syndrome

Gene Name

  • ADGRV1
  • CDH23
  • CIB2
  • CLRN1
  • MYO7A
  • PCDH15
  • PDZD7
  • USH1C
  • USH1G
  • USH2A
  • WHRN

Alternate Gene Name

USH3, USH3A, RP61, CIP98, WHRN, USH2D, PDZD7B, USH2C, MASS1, DKFZp761P0710, KIAA0686, FEB4, VLGR1b, USH1B, DFNB2, DFNA11, NSRD2, USH1F, DFNB23, CDHR15, PDZK7, FLJ23209, bA108L7.8, DFNB18, PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C, Sans, FLJ33924, ANKS4A, USH2, RP39, DFNB12, USH1D, DFNB48, USH1J, CDHR23, KIP2

Test Code

HHL-Panel 2

Division

Molecular Genetics

Method

Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel. Please see Hereditary Hearing Loss: Deletion & Duplication analysis.

External Proficiency Testing

CAP

Turn Around Time

3-4 weeks (Prenatal), 4-6 weeks (Pregnant or Urgent), 8-10 weeks (Routine)

Specimen Type

Blood; please contact the Genome Diagnostics Laboratory if you want to send gDNA. If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 10 ug of DNA in 100 uL low TE (pH8.0)

Storage/Transportation

If sample shipment  >48 hours, ship on ice.

Special Requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection.

Interpretation

Provided with report