Hearing Loss Advance Sequencing and CNV Evaluation

Genetic testing from Athena Diagnostics can help uncover the etiology of hearing loss

When it comes to genetic hearing loss, over 6,000 causative variants have been identified in more than 100 genes, underscoring the substantial impact an all-encompassing, multi-gene panel may have in aiding timely diagnosis.1
 
Many hearing loss genes have overlapping presentations that are hard to differentiate, making test selection difficult.2 Athena’s next-generation sequencing (NGS) panel provides clinicians unique insights to help address the problem.
 
For complex interpretations, Athena Diagnostics MDs, PhDs, scientists, and genetic counselors assess the pathogenicity of variants of uncertain clinical significance, offering you a comprehensive, objective assessment that can help you help your patients. 


A Comprehensive Testing Solution from Athena Diagnostics

The Hearing Loss Advanced Sequencing and CNV Evaluation is a comprehensive and up-to-date hearing loss panel. Our panel looks for sequence variations and copy number variants (CNVs) within the respective genes to provide physicians with clear insight to the etiology of the hearing loss.
 
Built on a foundation of decades of clinical testing, available literature, and the latest ACMG guidelines, the panel tests 183 genes and the DFNB1 locus, that are linked to hearing loss.
 
The American College of Medical Genetics and Genomics (ACMG) recommends that clinicians consider next-generation sequencing when evaluating the causes of hearing loss.³

When used in conjunction with other clinical testing, the Hearing Loss Advanced Sequencing and CNV Evaluation can have benefits including:
 
  • For newborns who fail hearing screen:
    • to explicitly determine the genetic etiology
    • to initiate an early intervention program and other medical management
  • For congenitally deaf patients to understand the cause of their hearing loss and determining appropriate interventions/treatments
  • For relatives of individuals with congenital deafness to determine carrier status and risk of recurrence
  • For patients considering the use of aminoglycoside antibiotics with reason to suspect they may carry aminoglycoside-sensitive mutations
  • For relatives of patients with an aminoglycoside-caused hearing loss condition 

Complete list of genes included

The Hearing Loss Advanced Sequencing and CNV Evaluation harnesses the power of sequencing and CNV analysis to provide a clear picture by testing for 183 genes and the DFNB1 locusa:
ABHD12 CEACAM16 CRYM EYA4 KARS MT-TIb OTOGL SERPINB6 TIMM8A
ACTB CEMIP DCDC2 FGF3 KCNE1 MT-TKb P2RX2 SIX1 TJP2
ACTG1 CHD7 DFNA5 FGFR1 KCNJ10 MT-TL1b PAX3 SIX5 TMC1
ADCY1 CHSY1 DFNB59
(PJVK)
FGFR2 KCNQ1 MT-TQb PCDH15 SLC12A1 TMEM132E
ADGRV1
(GPR98)
CIB2 DIABLO FGFR3 KCNQ4 MT-TS1b PDZD7 SLC17A8 TMIE
AIFM1 CISD2 DIAPH1 FOXI1 LARS2 MT-TS2b PEX1 SLC19A2 TMPRSS3
ALMS1 CLDN14 DIAPH3 GATA3 LHFPL5 MYH14 PEX6 SLC22A4 TNC
ANKH CLIC5 DLX5 GIPC3 LOXHD1 MYH9 PMP22 SLC26A4 TPRN
ATP2B2
(PMCA2)
CLPP DNMT1 GJB2 LRTOMT MYO15A PNPT1 SLC26A5 TRIOBP
ATP6V1B1 CLRN1 DSPP GJB3 MANBA MYO3A POLR1C SLC4A11 TSPEAR
ATP6V1B2 COCH EDN3 GJB6a MARVELD2 MYO6 POLR1D SLITRK6 USH1C
BCS1L COL11A1 EDNRA GPSM2 MCM2 MYO7A POU3F4 SMPX USH1G
BDP1 COL11A2 EDNRB GRHL2 MET NARS2 POU4F3 SNAI2 USH2A
BSND COL2A1 ELMOD3 GRXCR1 MIR96 NDP PRPS1 SOX10 WFS1
CABP2 COL4A3 EPS8 GRXCR2 MITF NLRP3 PTPRQ STRC WHRN
CACNA1D COL4A4 EPS8L2 HARS2 MSRB3 NR2F1 RDX SYNE4  
CCDC50 COL4A5 ERCC2 HGF MT-CO1b OPA1 RIPOR2
(FAM65B)
TBC1D24  
CD151 COL4A6 ERCC3 HOMER2 MT-CO2b OSBPL2 ROR1 TBX1  
CD164 COL9A1 ESPN HOXB1 MT-ND1b OTOA S1PR2 TCOF1  
CDC14A COL9A2 ESRRB HSD17B4 MT-RNR1b OTOF SALL1b TECTA  
CDH23 COL9A3 EYA1 ILDR1 MT-THb OTOG SEMA3E TFAP2A  

a CNV analysis only
b Sequencing only

Useful Resources

Test Details
Clinical Test Summary
Brochure

Journal Articles

Hereditary Hearing Loss and Deafness Overview
A Eliot Shearer, MD, PhD, Michael S Hildebrand, PhD, and Richard JH Smith, MD
 
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
Alford RL, Arnos KS, et al
 
New testing guidelines for hearing loss support next-generation sequencing: testing method may help determine genetic causes of hearing loss among patients whose phenotypes are not easily distinguished clinically.
Levenson D

References
1. Shearer AE, Hildebrand MS, Smith RJH. Hereditary hearing loss and deafness overview. GeneReviews. 1999 (Updated July 2017). https://www.ncbi.nlm.nih.gov/books/NBK1434/. Accessed October 10, 2017.
2. Alford RL, Arnos KS, Fox M, et al. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 2014:16(4):347-355. 
3. Levenson D. New testing guidelines for hearing loss support next-generation sequencing: testing method may help determine genetic causes of hearing loss among patients whose phenotypes are not easily distinguished clinically. Am J Med Genet. 164A(7): vii–viii.