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.
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Lavender (EDTA) or yellow (ACD Solution A or B). Peripheral blood required.
Transport 3 mL whole blood. (Min: 1 mL)
Submit the Patient History Form for Expanded Hearing Loss with the Electronic Packing List.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Refer to report.
Patient History forms are available online at www.aruplab.com.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
GENES TESTED: ACTG1, ADGRV1, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH*, COL11A2, CRYM, DIAPH1, DNMT1*, DSPP, ESPN**, ESRRB, EYA4, GIPC3**, GJB2, GJB3, GJB6, GPSM2, GRHL2, GSDME, HARS2, HSD17B4, ILDR1**, KCNQ4, LHFPL5, LOXHD1**, LRTOMT**, MARVELD2, MASP1, MT-RNR1***, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, OTOA***, OTOF, PCDH15, PDZD7**, PJVK, POU3F4, POU4F3, RDX, SIX1**, SLC26A4, SLC26A5, SMPX, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1, WHRN
* One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.
** Deletion/duplication detection is not available for this gene.
*** One or more exons are not covered by sequencing, and deletion/duplication detection is not available for this gene; see Additional Technical Information.
|Component Test Code*||Component Chart Name||LOINC|
|2008804||Expanded Hearing Loss Panel Specimen|
|2008807||Expanded Hearing Loss Panel Interp|
- Chudley-McCullough syndrome
- Perrault syndrome
- Usher syndrome
- Wolfram syndrome