| EX1628 Nx GEN SEQUENCING: OPHTHALMOPLEGIA |
| 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: |
Ophthalmoplegia is a progressive condition characterized by weakness of the eye muscles. It typically appears in adults between 18 to 40 years of age and slowly worsens over time. Mutations in several different genes on different chromosomes are associated with Ophthalmoplegia. This test is useful for the genetic determination of this disorder. |
| Doctor Specialty: |
Ophthalmologist |
| Disease: |
Weakness of Eye muscles |
| Components: |
C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4, TYMP |
| 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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