Most comprehensive genetic test for nonsyndromic and syndromic hearing loss. Recommended test for nonsyndromic hearing loss if GJB2, GJB6, and mitochondrial variant testing is negative. Recommended test for syndromic hearing loss if symptoms are consistent with disorders included on the panel.
- Patient Preparation
- Collect
- Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required.
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Refrigerated.
- Unacceptable Conditions
- Remarks
- Submit the Patient History Form for Expanded Hearing Loss with the Electronic Packing List.
- Stability
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Patient History forms are available online at www.aruplab.com.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
2008804 | Expanded Hearing Loss Panel Specimen | |
2008807 | Expanded Hearing Loss Panel Interp |
- 0051374 Connexin 26 (GJB2) Sequencing
- 2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions
- 2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB2) 2 Deletions and Mitochondrial DNA
- ACTG1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB31, DIAPH1, DNMT1
- DSPP, ESPN, ESRRB, EYA4, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, HARS2
- HSD17B4, KCNQ4, LHFPL5, MARVELD2, MASP1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOA, OTOF
- PCDH15, PJVK, POU4F3, RDX, SLC26A4, SLC26A5, SMPX, STRC, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP
- USH1C, USH1G, USH2A, WFS1
- Usher syndrome
- Wolfram syndrome