| EX1631 Nx GEN SEQUENCING: USHER SYNDROME |
| Specimen: |
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
72 hrs |
NA |
|
| Method: |
NGS, Sanger sequencing |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
Usher syndrome is a condition characterized by partial or total sensorineural hearing loss and vision loss that aggravates over time. There are three major types of Usher syndrome namely types I, II, and III distinguished by the severity of hearing loss, the presence or absence of balance problems, and the age at which signs and symptoms appear. The types are further divided into subtypes based on their genetic cause. Mutations in several different genes on different chromosomes are associated with Usher syndrome. This test is useful for the genetic determination of this disorder. |
| Doctor Specialty: |
Ophthalmologist, ENT Specialist |
| Disease: |
Loss of Hearing & Vision |
| Components: |
CDH23, CIB2, CLRN1, DFNB31, ADGRV1, MY- O7A, PCDH15, PDZD7, USH1C, USH1G, USH2A |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
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