Nx GEN SEQUENCING BETHLEM MYOPATHY MYOFIBRILLAR MYOPATHY and ULLRICH MUSCULAR DYSTROPHY Test
At DNA Labs UAE, we offer the Nx Gen Sequencing test for the diagnosis of various genetic disorders, including Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy. This test can provide valuable insights into the genetic causes of these conditions.
Test Components
- BAG3
- COL6A1
- COL6A2
- COL6A3
- CRYAB
- DES
- FLNC
- LDB3
- MYOT
Test Price
The cost of the Nx Gen Sequencing test for Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy is 4680.0 AED.
Sample Condition
To perform the test, please submit 10 mL (5 mL minimum) of whole blood from 2 Lavender Top (EDTA) tubes. The sample should be shipped refrigerated and should not be frozen. Additionally, a duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Report Delivery
The sample should be submitted daily by 9 am. The report will be delivered within 40 working days.
Method
The Nx Gen Sequencing test utilizes Next-Generation Sequencing (NGS) and Sanger sequencing methods for accurate and comprehensive genetic analysis.
Test Type
The Nx Gen Sequencing test is classified under Genetic Disorders-Muscle weakness & Joint contractures.
Referring Doctor
The test is recommended to be conducted by a Neurologist.
Test Department
The Nx Gen Sequencing test is performed in the Molecular Diagnostics department of DNA Labs UAE.
Pre Test Information
A duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory before conducting the test.
Test Details
The Nx Gen Sequencing test is a genetic testing method used to diagnose genetic disorders such as Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy. Bethlem Myopathy is a rare genetic disorder characterized by muscle weakness and joint stiffness. It is caused by mutations in the COL6A1, COL6A2, or COL6A3 genes, which are involved in the production of collagen VI. Myofibrillar Myopathy is a group of genetic disorders that affect muscle fiber structure and function. It is caused by mutations in various genes, including DES, CRYAB, MYOT, and others. Symptoms of myofibrillar myopathy can include muscle weakness, muscle wasting, and abnormal muscle stiffness. Ullrich Muscular Dystrophy is a rare genetic disorder characterized by muscle weakness and joint stiffness, also caused by mutations in the COL6A1, COL6A2, or COL6A3 genes. The Nx Gen Sequencing test analyzes an individual’s DNA to identify any mutations or genetic variations in the relevant genes associated with these disorders. This test can confirm a diagnosis and provide information about the specific genetic cause of the condition. It can also be used for carrier testing and prenatal diagnosis in families with a history of these disorders.
| Test Name | Nx GEN SEQUENCING BETHLEM MYOPATHY MYOFIBRILLAR MYOPATHY and ULLRICH MUSCULAR DYSTROPHY Test |
|---|---|
| Components | BAG3, COL6A1, COL6A2, COL6A3, CRYAB, DES, FLNC, LDB3, MYOT |
| Price | 4680.0 AED |
| Sample Condition | Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
| Report Delivery | Sample Daily by 9 am; Report 40 Working days |
| Method | NGS, Sanger sequencing |
| Test type | Genetic Disorders-Muscle weakness & Joint contractures |
| Doctor | Neurologist |
| Test Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information | Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. |
| Test Details |
The Nx Gen Sequencing test is a genetic testing method that can be used to diagnose various genetic disorders, including Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy. Bethlem Myopathy is a rare genetic disorder characterized by muscle weakness and joint stiffness. It is caused by mutations in the COL6A1, COL6A2, or COL6A3 genes, which are involved in the production of collagen VI, a protein that provides structure and support to muscles. Myofibrillar Myopathy is a group of genetic disorders that affect the structure and function of muscle fibers. It is caused by mutations in various genes, including DES, CRYAB, MYOT, and others. Symptoms of myofibrillar myopathy can include muscle weakness, muscle wasting, and abnormal muscle stiffness. Ullrich Muscular Dystrophy is a rare genetic disorder characterized by muscle weakness and joint stiffness. It is caused by mutations in the COL6A1, COL6A2, or COL6A3 genes, which are also involved in the production of collagen VI. The Nx Gen Sequencing test analyzes the DNA of an individual to identify any mutations or genetic variations in the relevant genes associated with these disorders. This can help in confirming a diagnosis and providing information about the specific genetic cause of the condition. It can also be used for carrier testing and prenatal diagnosis in families with a history of these disorders. |
