Expanded Hearing Loss Panel, Sequencing (56 Genes)
2008800
Ordering Recommendation
May be ordered as first-tier genetic test for hearing loss, or after GJB2, GJB6, and mitochondrial mutation testing has been performed.
Mnemonic
EHL SEQ
Methodology
Massive Parallel Sequencing
Performed
Varies
Reported
10-12 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).  
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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81252 (GJB2), 81254 (GJB6), 81404 x2 (CLRN1, USH1G), 81405(DFNB59), 81406 (SLC26A4), 81407 x3 (MYO7A, PCDH15, USH1C), 81408 x2 (CDH23, USH2A), 81479
Components
Component Test Code*Component Chart Name
2008801Expanded Hearing Loss Seq Specimen
2008802Expanded Hearing Loss Sequencing 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 2 Mutations
  • 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