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Bio B2BSofiva Genomics 〉Newborn genetic screening for hearing impairment using real-time PCR with FRET probes

Newborn genetic screening for hearing impairment using real-time PCR with FRET probes

Newborn genetic screening for hearing impairment using real-time PCR with FRET probes

Real-time polymerase chain reaction assay with fluorescence resonance energy transfer hybridization probe is a promising tool for newborn screening of deafness genes, allowing early diagnosis of deafness.

Request for Collaboration
Overview
Hearing Loss, about 2 / 3 can be attributed to genetic mutations, is the most common congenital defects, so genetic testing has become a powerful tool for the clinical assessment. Around 75–80% of all cases are inherited by recessive genes, 20–25% is inherited by dominant genes, 1–2% is inherited by X-linked patterns, and less than 1% is inherited by mitochondrial inheritance. Through continuous research and development, we establish an accurate and stable newborn genetic testing. We use newborn bloodspot screening, a small sample of blood taken from the baby's heel, to do DNA extraction for screening hearing impairment gene. The newborn genetic targeted 4 deafness-associated mutations commonly found in Taiwanese population, including c.109G>A and c.235delC of the GJB2 gene, c.919-2A>G of the SLC26A4 gene, and mitochondrial m.155A>G of the 12S rRNA gene. The four mutations were screened using the real-time polymerase chain reaction (PCR) assay with fluorescence reso-nance energy transfer (FRET) hybridization probes. Compare to two traditional methods, Automated Auditory Brainstem Response (AABR) measures how the hearing nerve responds to sound and Otoacoustic Emissions (OAE) measures sound waves produced in the inner ear, genetic testing is suggested to identify the causes of hearing impairment. Since the traditional hearing loss  screenings can not identify mild, moderate hearing impairment and progressive type which results in the hearing getting worse with age, the early detection through “Hereditary hearing loss screening” is very important.
Application
1. Who has a family history
2. Who was exposed to drugs known to affect hearing
3. Who has low birth weight and/or prematurity, or oxygen deprivation or breathing difficulties at birth.
4. Who has high bilirubin levels (yellow color)
5. Who has abnormal head or face structures
6. Who has infections such as cytomegalovirus, syphilis, herpes, or toxoplasmosis.
7. Who has low Apgar scores (which assess several health factors at one and again at five minutes after birth)
More Information
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