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.
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.

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.

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.

Hotline History
N/A
CPT Codes

81430

Components
Component Test Code* Component Chart Name LOINC
2008804 Expanded Hearing Loss Panel Specimen
2008807 Expanded Hearing Loss Panel Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Chudley-McCullough syndrome
  • Perrault syndrome
  • Usher syndrome
  • Wolfram syndrome
Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication