| EX1629 Nx GEN SEQUENCING: OPTIC ATROPHY |
| 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: |
Hereditary optic neuropathies result from genetic defects that cause vision loss and occasionally cardiac or neurologic abnormalities. Mutations in several different genes on different chromosomes are associated with Optic neuropathies. This test is useful for the genetic determination of this disorder. |
| Doctor Specialty: |
Ophthalmologist |
| Disease: |
Loss of vision |
| Components: |
ACO2, AFG3L2, C12ORF65, CISD2, MFN2, NR2F1, OPA1, OPA3, SLC25A46, SPG7, TIMM8A, TMEM126A, WFS1 |
| 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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