| EX1606 Nx GEN SEQUENCING: ALEXANDER DISEASE |
| 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: |
Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before 2 years of age – the infantile form which typically includes an enlarged brain & head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later in childhood – the juvenile form or in adulthood. |
| Doctor Specialty: |
Neurologist, Pediatrician |
| Disease: |
Genetic Disorders-Spasticity with seizures |
| Components: |
*GFAP |
| 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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