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Hereditary Hearing Loss: Syndromic Hearing Loss - Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome
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Alternate Gene Names
CA44, ASLN, ATS, HSCR2, HSCR, ETB, WS2A, WS2, MI, bHLHe32, EVR2, norrin, WS1, HUP2, DOM, WS4, WS2E, treacle, ET3
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)
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.
Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome
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