Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes)
2008803
Ordering Recommendation
Most comprehensive genetic test for nonsyndromic and syndromic hearing loss. May be ordered as first-tier genetic test for hearing loss, or after GJB2, GJB6, and mitochondrial mutation testing has been performed.
Mnemonic
EHL PANEL
Methodology
Massive Parallel Sequencing/Exonic Oligonucleotide-based CGH Microarray
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). 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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81252  (GJB2), 81254  (GJB6) , 81404 x2  (CLRN1; USH1G), 81405  (DFNB59), 81406 x2  (PCDH15; SLC26A4), 81407 x3  (MYO7A; PCDH15; USH1C), 81408 x2  (CDH23; USH2A), 81479x2
Components
Component Test Code*Component Chart Name
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 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