Hereditary Hearing Loss: Stickler Syndrome
Alternate test name
HHL: Stickler Syndrome
Gene name / Alternate gene name
Alternate Gene Names
COLL6, STL2, DFNA13, DFNB53, HKE5, SEDC, AOM, STL1
Genome Diagnostics - Molecular Genetics
Method and equipment
Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel by exon targeted microarray.
Expected turn-around time
Prenatal samples/Pregnancy/STAT: 2 weeks Routine: 6 weeks
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).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation
Blood-Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.
If sample shipment >48 hours, ship on ice.
Special Instructions for Genome Diagnostics Samples
Please ship us the blood sample within 48 hours of collection.
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab: firstname.lastname@example.org
Email Cytogenetics: email@example.com
Background and clinical significance
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Toll Free: 1-855-381-3212