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Paediatric Laboratory Medicine

Hereditary Hearing loss: Syndromic Hearing Loss - Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome

Background

See related pages for information sheets on Hereditary Hearing Loss: Treacher Collins, Waardenburg, Norrie, Alport Syndrome

Clinical Significance

See related pages for information sheets on Hereditary Hearing Loss Treacher Collins, Waardenburg,  Norrie, Alport Syndrome

Test Name

Hereditary Hearing loss: Syndromic Hearing Loss - Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome

Alternate Name/ Synonym

HHL: Syndromic Hearing Loss

Gene Name

  • COL4A3
  • COL4A4
  • COL4A5
  • EDN3
  • EDNRB
  • MITF
  • NDP
  • PAX3
  • SOX10
  • TCOF1

Alternate Gene Name

CA44, ASLN, ATS, HSCR2, HSCR, ETB, WS2A, WS2, MI, bHLHe32, EVR2, norrin, WS1, HUP2, DOM, WS4, WS2E, treacle, ET3

Test Code

HHL-Panel 4

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)

Disease/Condition

Treacher Collins syndrome, Waardenburg syndrome,  Norrie syndrome, Alport syndrome

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