| Purpose | BGI NOVA™ Newborn Hereditary Hearing Loss Screening: Genetic factors are responsible for over 50% of hearing loss encountered in neonates, and account for nearly 40% of childhood hearing loss. Test examines 218 genes associated with an increased risk for both non-syndromic and syndromic hereditary deafness using NGS. - Autosomal dominant non-syndromic hearing loss (46 genes)
- Autosomal recessive non-syndromic hearing loss (72 genes)
- Syndromic hearing loss (119 genes)
- X-link hereditary hearing loss (6 genes)
- Y-link hereditary hearing loss (1 gene)
- Maternally inherited hearing loss (5 genes)
(Genes detail can be seen in Brochure
SUITABLE FOR:
Option 1: Newborns pregnant couples with normal phenotype.
Option 2: Deafness or hearing loss patient population with a family history of deafness or hearing loss.
|
| Test Code | HW1206 |
| Turnaround Time (TAT) | 30 Days |
| Sample Tested | BGI NOVA™ Newborn Hereditary Hearing Loss Screening: - 2-5mL of peripheral blood in EDTA.
|
| Methodology | - DNA Extraction and QC.
- Targeted Capture of 218 genes associated with Hereditary Hearing Loss.
- Identification of pathogenic mutations in 218 genes using NGS Sequencing.
- Reports having information for pathogenic mutations in baby and detecting a disease at an early stage can enable appropriate and timely medical intervention before more serious and sometimes irreversible health issues are caused.
- Genetic Counseling.
|
| Advantages | BGI NOVA™ Newborn Hereditary Hearing Loss Screening: - Accurate determination of the etiology of the patient’s hearing loss.
- Reduction or elimination of the need for further invasive and costly diagnostic tests.
- Basis for prognostic information about future hearing and potential medical complications.
- Guidance regarding treatment and long-term medical management, particularly for young infants.
- Definitive information for family genetic counseling.
| |
