• Test Code:
    1495
  • Department:
  • Test Synonyms:
    Hearing lossDeafnessHearing impairmentDeafABHD12ABHD5ACTG1ANKHARSBATP6V1B1BSNDBTDCACNA1DCCDC50CDH23CDKN1CCEACAM16CHD7CIB2CISD2CLDN14CLRN1COCHCOL11A1COL11A2COL2A1COL4A3COL4A4COL4A5COL9A1COL9A2CRYMDFNA5DFNB31DFNB59DIABLODIAPH1DIAPH3DLX5DNMT1DSPPEDN3EDNRBESPNESRRBEYA1EYA4FGF3FGFR3FOXC1FOXI1GATA3GIPC3GJB2GJB3GJB6GPR98GPSM2GRHL2GRXCR1HARS2HGFHSD17B4ILDR1KCNE1KCNJ10KCNQ1KCNQ4LHFPL5LOXHD1LRTOMTMARVELD2MASP1MIR96MITFMSRB3MTRNR1MYH14MYH9MYO15AMYO1AMYO3AMYO6MYO7ANDPNLRP3OTOAOTOFPAX3PCDH15PDZD7PITX2POU3F4POU4F3PRPS1PTPRQRDXRPS6KA3SALL1SALL4SEMA3ESERPINB6SIX1SIX5SLC17A8SLC19A2SLC26A4SLC26A5SLC29A3SMPXSNAI2SOX10STRCTCOF1TECTATIMM8ATJP2TMC1TMIETMPRSS3TPRNTRIOBPUSH1CUSH1GUSH2AWFS1
  • CPT Code(s):
    81430
Background:

Hearing loss may be classified according to type (conductive, sensorineural or mixed) and onset (prelingual and postlingual) and may vary in severity.  Hearing loss has been reported with X-linked, autosomal dominant or autosomal recessive inheritance (note: mitochondrial alterations associated with hearing loss are not a component of this panel).  Approximately 1/500 newborns are affected by prelingual hearing loss – of these cases, roughly 50% have a genetic cause and 70% of these are non-syndromic; of these, the majority of autosomal recessive.  The most common genetic cause of non-syndromic hearing loss is the recessive condition DFNB1, associated with mutations in GJB2.  Of prelingual hearing loss, roughly 15% are associated with a known genetic syndrome.  This next-generation sequencing test is designed to detect mutations in the coding region of -122 genes associated with hearing loss or are associated with syndromes that have hearing loss as a phenotypic feature.

Reasons for Referral:

  • Confirmation of a clinical diagnosis of hearing loss.
  • Carrier testing for individuals with a positive family history for hearing loss (targeted testing is available if familial mutation is known).

Methodology:

Next generation sequencing using Illumina NextSeq 500 technology of the hearing loss-associated genes listed below. MT-RNR1 gene is sequenced by Sanger sequencing only. PCR amplification and sizing of product is utilized to perform break point analysis of the D13S1830 deletion of GJB6/Connexin 30 in comparison to positive and normal controls. 

Comprehensive Hearing Loss (122 genes)
ABHD12, ABHD5, ACTG1, ANKH, ARSB, ATP6V1B1, BSND, BTD, CACNA1D, CCDC50, CDH23, CDKN1C, CEACAM16, CHD7, CIB2, CISD2, CLDN14, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, CRYM, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRB, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR3, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HARS2, HGF, HSD17B4, ILDR1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MASP1, MIR96, MITF, MSRB3, MTRNR1, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NDP, NLRP3, OTOA, OTOF, PAX3, PCDH15, PDZD7, PITX2, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RPS6KA3, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SMPX, SNAI2, SOX10, STRC, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, USH1G, USH2A, WFS1

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL 
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):

Weekly

Turn Around Time:

Eight Weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen.
  • Ship via overnight express, using the FedEx priority overnight label provided.
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.

References:

Additional Info:

The Knight Cancer Institute at Oregon Health & Science University is a pioneer in the field of precision cancer medicine. The institute's director, Brian Druker, M.D., helped prove it was possible to shut down just the cells that enable cancer to grow. This breakthrough has made once-fatal forms of the disease manageable and transformed how cancer is treated. The OHSU Knight Cancer Institute is the only National Cancer Institute-designated Cancer Center between Sacramento and Seattle – an honor earned only by the nation's top cancer centers. It is headquarters for one of the National Cancer Institute's largest research collaboratives, SWOG, in addition to offering the latest treatments and technologies as well as hundreds of research studies and clinical trials.

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