Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication
2008803
Ordering Recommendation
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.
Mnemonic
EHL PANEL
Methodology
Massively Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
Performed
Varies
Reported
3-6 weeks
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
- 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
Reference Interval
By report
Interpretive Data
Refer to report.
Patient History forms are available online at www.aruplab.com.
Patient History forms are available online at www.aruplab.com.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Note
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.
* 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.
Hotline History
View Hotline History
CPT Code(s)
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2008804 | Expanded Hearing Loss Panel Specimen | |
| 2008807 | Expanded Hearing Loss Panel Interp |
Aliases
- Chudley-McCullough syndrome
- Perrault syndrome
- Usher syndrome
- Wolfram syndrome