Congenital Hearing Loss Is The Most Common Birth Defect 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 Elderly 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 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.

* Toriello, Reardon & Gorlin, 2004

 

Usher Syndrome Can Have Different And Complex Causes

Usher syndrome is related to 3 to 6 percent of all childhood deafness and about 50% of deaf-blindness in adults, representing about half of all people who are both deaf and blind. The syndrome is caused by genetic mutations causing retinitis pigmentosa and congenital deafness.

Get the full picture. We’ve designed the robust and cost-effective Usher Panel to help you understand the cause of hearing deficit and blindness in Usher syndrome. Otogenetics Usher Gene Panel has been used to identify gene mutations and copy number variation (CNV) in the Usher genes. In addition, clinical researchers used Otogenetics Usher Gene Panel Testing to investigate Usher gene mutation frequency in certain population.