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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.

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
Hotline History
View Hotline History
CPT Code(s)
81252; 81254; 81404; 81405; 81406; 81407; 81408; 81479
Components
Component Test Code*Component Chart NameLOINC
2008804Expanded Hearing Loss Panel Specimen
2008807Expanded 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
  • 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