| EX1611 Nx GEN SEQUENCING: BETHLEM MYOPATHY, MYOFIBRILLAR MYOPATHY & ULLRICH 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: |
Collagen VI-related myopathy is a group of disorders that affect skeletal muscles and connective tissues. Most affected individuals have muscle weakness and joint contractures which restrict the movement of affected joints. Bethlem myopathy is the mildest form of Collagen VI-related myopathy and Ullrich congenital muscular dystrophy is the most severe form. Mutations in the COL6A1, COL6A2, and COL6A3 genes result in a decrease or lack of type VI collagen or the production of abnormal type VI collagen. In general, lower amounts of type VI collagen lead to more severe signs and symptoms that begin earlier in life. Myofibrillar myopathy is part of a group of muscular dystrophies that affect muscle function and cause weakness. It primarily affects skeletal muscles and in some cases, cardiac muscles to are affected. Mutations in several genes can cause myofibrillar myopathy. These genes code for proteins that play important role in muscle fibers. Mutations in the DES, MYOT and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy with a known genetic cause. Other associated genes are BAG3, CRYAB, and FLNC. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Genetic Disorders-Muscle weakness & Joint contractures |
| Components: |
BAG3, COL6A1, COL6A2, COL6A3, CRYAB, DES, FLNC, LDB3, MYOT |
| 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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