| EX1619 Nx GEN SEQUENCING: DUCHENNE & BECKER MUSCULAR DYSTROPHY |
| 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: |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive muscular dystrophies caused by mutations in the dystrophin/DMD gene. DMD affects 1/3000 male births and is more common than BMD. Both disorders affect proximal muscles, especially the lower extremities. DMD manifests early with difficulty in climbing stairs and running but later it leads to generalized weakness. BMD manifests between 5-15 years of age and progresses at a much slower rate. Cardiac involvement is common in both diseases and may result in heart failure. Mental retardation may occur in both disorders but is more common in DMD. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Genetic Disorders-Muscular Dystrophy |
| Components: |
For MLPA negative cases *DMD |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
Reviews
There are no reviews yet.