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Paediatric Laboratory Medicine

Hereditary Hearing Loss: Stickler Syndrome

Background

See related pages for information sheets on Hereditary Hearing Loss: Stickler Syndrome

Clinical Significance

See related pages for information sheets on Hereditary Hearing Loss Stickler Syndrome.

Test Name

Hereditary Hearing Loss: Stickler Syndrome

Alternate Name/ Synonym

HHL: Stickler Syndrome

Gene Name

  • COL11A1
  • COL11A2
  • COL2A1
  • COL9A1
  • COL9A2

Alternate Gene Name

COLL6, STL2, DFNA13, DFNB53, HKE5, SEDC, AOM, STL1

Test Code

HHL-Panel 3

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