Gx™ Deafness Gene Testing- Hearing Loss Gene Testing

Effective and comprehensive Deafness Gene testing to determine the cause of hearing loss

Download the Test Requistion Form Here

Congenital Hearing Loss is the Most Common Birth Defects and Hearing Loss Affects Almost all Families. 

  • Worldwide, 1-2 per 1000 babies are born deaf (CDC Data and Statistics).
  • Up to 14.9% of the population between 3-19 years old have some degrees of hearing loss. In the older population, more than 50% of the  people are affected.
  • In each of our families, we have a child, a sister or a brother, a mother or a father, an uncle or an aunt, or a grandmother or a grandmother who is hearing impaired. 
  • Most hearing deficits have an underlying genetic component (CDC Genetics/Hearing)

Hereditary Hearing Loss Could be Syndromic or Non-Syndromic

Non-syndromic Hearing Loss Pattern of Inheritance:

  • autosomal dominant (DFNA)
  • autosomal recessive (DFNB)
  • linked to sex chromosome or X-linked (DFNX)
  • Mitochondria

Syndromic Hearing Loss:

  • Usher Syndrome
  • DDOD Syndrome
  • Biotinidase Deficiency
  • Bjoprnstad Syndrome
  • Distal Renal Tube Acidsis and Deafness
  • Hypoparathyroidism
  • Chudley-McCullough Syndrome
  • Jervell and Lnage-Nielsen Syndrome
  • Waardenburg Syndrome
  • Norrie Disease
  • Bosch-Boonstra-Schaaf  Optic Atrophy Syndrome 
  • Refsum disease
  • Branchiootrorenal Syndrome
  • Pendred Syndrome
  • Mohr-tranebjaery Syndrome
  • Stickler Syndrome
  • X-linked Alport Syndrome
  • X-linked Charot-Marie-Tooth Disease
  • X-linked Mohr-Tranebjaerg Syndrome
  • Waardenburg Syndrome

Newborn Hearing Screening is Mandatory in the US and Many Other Countries

Hearting 1 3 6 Steps

Comprehensive Hearing Gene Testing Provides Effective Precision Healthcare for Newborns and Old Patients

  • 1-2% of infants fail their initial mandatory hearing screen, or a 80-90% of false positive rate.
  • Comprehensive deafness gene panel testing as a first line confirmation diagnostic at no later than 3 months was cost effective (Click here for research support and check out CDC A Parent's Guide to Genetics & Hearing Loss). 
  • Identification of genetic root causes of hearing impairment provides insight for early intervention and management of certain syndromic hearing loss to mitigate the progression of other severe symptoms. 
  • Prevention of deafness for patients carrying ototoxic antibiotic sensitive gene variants
  • Pre-onset intervention of life-threatening or blindness for patients carrying gene variants in syndromic deafness, such as Jervell and Lange-Nielsen (hearing impairment and LQT), USH (deaf and progressive retinal pigmentosa), Biotinidase deficiency (Biotin supplement), and Refsum (dietary restriction of Phytanic acid intake).
  • Committee on Infant Hearing (JCIH, 2007) and the American College of Medical Genetics (ACMG, 2002) recommend genetic testing

Candidates for the Otogenetics Comprehensive Deafness Gene Testing (Gx™ DA) 

  • Newborns who fail the mandatory hearing screen:
    • to precisely identify the genetic cause
    • to select the best intervention/treatment
  • Congenitally deaf patients for understanding the cause of their hearing loss and determining appropriate interventions/treatments
  • Family members of congenital deaf persons to determine whether they are carriers of hearing loss mutation(s)
  • Patients with a need for aminoglycoside antibiotics with reason to suspect they may carry aminoglycoside-sensitive mutations
  • Family members of patient with an aminoglycoside-caused hearing loss condition

Option to Test for Novel Deafness Genes

The genetic causes for some Deafness patients remain unknown. Novel genetic causes for deafness may be identified by a more comprehensive genetic test.  Want to examine more genes for the diagnosis of novel genetic causes of rare diseases including deafness? Click here to view our clinical whole exome sequencing. Check out a new publication that applied Otogenetics exome sequencing to determine the genetic causes of hearing loss

Otogenetics Deafness Gene test for research and clinical diagnosis

Otogenetics Deafness Gene Testing can be used for clinical diagnostic of patients. For clinical diagnosis, click the Requisition Form link on the right to download the requisition form for the test.

Otogenetics Deafness Gene Testing can also be used for research, which will not require a clinical report, but raw sequencing data or selected analysis options. For researchers interested at Oto-DA, click here to submit a quote request form for more information. 


Download the Test Requisition Form Here


* Toriello, Reardon & Gorlin, 2004

167 Genes Sampled

DFNA

ACTBCCDC50,  CEACAM16COCH,  CRYMICERE1

DIABLODIAPH1DSPPEYA4,GJB3GRHL2HOMER2

KCNQ4KITLGMCM2miR96MYH14MYH9P2RX2

POU4F3SLC17A8SLC26A5, TBC1D24TJP2TMC1,

TNCWFS1

DFNB

ACTG1CABP2CDC14ACLDN14,  ELMOD3ESPNESRRB

GIPC3GJB2GJB6GRXCR1GRXCR2HGFILDR1KARS

CEMIPLHFPL5LOXHD1LRTOMTMARVELD2MET

MSRB3MYO15AMYO3AMYO6OTOAOTOFOTOG

OTOGLPDZD7 (DFNB57)PJVKPNPT1PTPRQRDXRIPOR2

S1PR2SERPINB6STRCSYNE4TECTATMIETMPRSS3

TPRNTRIOBP

DFNX

AIFM1, POU3F4PRPS1

Aminoglycoside-associated Deafness Genes

MT-CO1, MT-TEMT-RNR1 

Mitochondria-associated Hearing Loss Genes

MT-TDMT-THMT-TIMT-TKMT-TL1MT-TL2

MT-TMMT-TQMT-TS1MT-TS2

Other Deafness-associated Genes

ECE1EDNRAERCC2ERCC3FASGJB4

GSTP1HALFGF3FGFR3GATA3GJA1JAG1

LHX3NF2MIR182MIR183MTAPMYO1AMYO1C

MYO1FNDPNR2F1OTORPMP22SLC4A11SNAI2

SOX2SPINK5TBL1XTCF21TFCP2TMPRSS5

Distal Renal Tube Acidsis and Progressive Deafness:  ATP6V1B1

DDOD SyndromeATP6V1B2

Bjornstad Syndrome (BJS):  BCS1L

Sensorineural Deafness with Mild Renal Dysfunction; Bartter Syndrome, Type 4aBSND (DFNB73)

Biotinidase Deficiency: BTD

Male Infertility:  CATSPER2

Usher Syndrome:  

MYO7A (USH1B/DFNB2/DFNA11)USH1C (DFNB18/PDZD7C)

CDH23 (USH1D/DFNB12)PCDH15 (USH1F/DFNB23), 

USH1G (SANS)CIB2 (USH1J/DFNB48),

USH2A (Usherin)ADGRV1 (USH2B/2C)WHRN (USH2D/DFNB31),

 CLRN1 (USH3A)

Stickler Syndrome

COL11A1 (STL2)COL11A2 (STL3/DFNA13/DFNB53)

COL2A1 (STL1)COL9A2 (STL5)COL9A3

Alport Syndrome (X-linked)COL4A3COL4A4, COL4A5, COL4A6 (DFNX6)

Waardenburg Syndrome (WS):  EDNRBEDN3,  MITF,  PAX3SMPX, SOX10

Branchiootorenal Syndrome (BOR): EYA1SIX1(DFNA23)SIX5

Enlarged Vestibular Aqueduct (EVA)FOXI1KCNJ10,  SLC26A4 (Pendred Syndrome)

X-linked Dominant Charcot-Marie-Tooth DiseaseGJB1(Cx32)TIMM8A,

Chudley-McCullough SyndromeGPSM2 

Jervell and Lange-Nielsen Syndrome, Deafness and LQTKCNE1KCNQ1

Refsum Disease: PEX7, PHYH