Congenital Hearing Loss Is The Most Common Birth Defect And Hearing Loss Affects Almost All Families
- Universal Newborn Hearing Screening (UNHS) is mandatory in the US and many other countries.
- Worldwide, 1-2 per 1000 babies are born deaf (CDC Data and Statistics). Based on the recent CDC study from 50 states spanning 2015-2017, hearing loss is the most common congenital condition present at birth, more than the most common newborn dry blood spot (DBS) screened conditions (primary Congenital Hypothyroidism, Sickle Cell Disease and Cystic Fibrosis) and critical congenital heart defects (CHD) combined.
- 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.
- Genetic mutations and congenital CMV infection account for 80-90% of all congenital hearing loss cases
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.
Insights Into The Precise Causes Of Hearing Deficits
Diagnosis Of Hearing Deficits Can Be Complex
- Most hearing deficits have an underlying genetic component
- Genetic mutations in over 100 genes can cause congenital non-syndromic and syndromic hearing loss
- More than 400 syndromes have been identified with hearing loss as a symptom*
- Mutations in certain genes cause sensitivity to specific antibiotics that, if used causes hearing loss in affected individuals
- The best possible plans for medical interventions and monitoring can be developed by quickly understanding the root cause
- Genetic testing has been demonstrated to be cost-effective and is recommended as an integral part of the evaluation of children with permanent hearing loss by the American College of Medical Genetics and Genomics
- Get the full picture. We’ve designed the robust and cost-effective DA3 Deafness Panel to help you understand the cause of an infant or child’s hearing deficit
* Toriello, Reardon & Gorlin, 2004
Otogenetics’ Molecular Screening of Congenital Hearing loss tests for a comprehensive panel of deafness genes and CMV from the same specimen
Otogenetics’ GxVision Molecular Screening of Congenital Hearing Loss testing analyzes a comprehensive panel of deafness genes and detects CMV from the same specimen
Otogenetics Comprehensive Deafness Gene Panel
167 Genes Sampled
Aminoglycoside-Associated Deafness Genes:
Mitochondria-Associated Hearing Loss Genes:
Other Deafness-Associated Genes:
Distal Renal Tube Acidsis and Progressive Deafness: ATP6V1B1
DDOD Syndrome: ATP6V1B2
Bjornstad Syndrome (BJS): BCS1L
Sensorineural Deafness With Mild Renal Dysfunction; Bartter Syndrome, Type 4a: BSND (DFNB73)
Biotinidase Deficiency: BTD
Male Infertility: CATSPER2
Chudley-McCullough Syndrome: GPSM2
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
Genetic Testing As A First Line Diagnostic Is Cost-Effective
Researchers from Children’s National Medical Center and George Washington University School of Medicine investigated whether comprehensive gene panel testing is cost effective when compared against imaging in evaluation of pediatric sensorineural hearing loss. Their findings were presented at the annual meeting of the American Society for Pediatric Otolaryngology in May 2016. The team found that comprehensive gene panel testing as a first line diagnostic was cost effective for all groups assessed – patients with mild, moderate, severe or unilateral hearing loss. (Click Here to view their research.)
Why Go Through Multiple Steps?
Once your panel is completed, we want you to have the information you need to inform and diagnose the root cause of hearing deficit. The Otogenetics DA3 Deafness Panel was designed by leading auditory molecular genetics experts and pediatric ENT physicians, and with support from NIH/National Institute of Deafness and Other Communicative Diseases, and assesses 129 genes known to be related to hearing in a single test. It also provides insights into genes known to be associated with syndromes for which hearing deficits are a symptom, other genetic causes that are non-syndromic, and insight into potential antibiotic-sensitivity issues known to cause hearing loss in some individuals.
Multiple Rounds Of Testing Can Be Time Consuming And Expensive
This comprehensive Deafness Panel provides you with a robust and clinically-actionable data to minimize the need for further testing to diagnose the cause of hearing deficit
Smaller panels (e.g., Connexin) provide limited information and often require further genetic sequencing to determine the exact cause of the hearing deficit, resulting in delays in diagnosis
We’ve created this unique and comprehensive panel to give you the full picture, in an efficient and cost-effective way
Fast turnaround time of 4 weeks
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. Browse 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.
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. View gene list.
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.