MYOTONIC DYSTROPHY TYPE 1 Test
At DNA Labs UAE, we offer the MYOTONIC DYSTROPHY TYPE 1 test for individuals who suspect they may have this neurologic disorder. This test can accurately diagnose the condition by analyzing the DMPK gene for the presence of an abnormal expansion of CTG repeats. Here is everything you need to know about the test:
Test Cost
The cost of the MYOTONIC DYSTROPHY TYPE 1 test is AED 1400.0.
Test Components
- DMPK Gene
Sample Condition
For the test, we require a minimum of 2 mL of whole blood from 1 Lavender Top (EDTA) tube. The sample should be shipped refrigerated and should not be frozen.
Report Delivery
The sample should be submitted by Monday before 11 am. The report will be delivered on Friday.
Method
The MYOTONIC DYSTROPHY TYPE 1 test is conducted using the PCR (Polymerase Chain Reaction) method and Fragment Analysis.
Test Type
The MYOTONIC DYSTROPHY TYPE 1 test falls under the category of Neurologic Disorders.
Doctor
The test is conducted under the supervision of a Neurologist.
Test Department
The MYOTONIC DYSTROPHY TYPE 1 test is conducted in the Molecular Diagnostics department.
Pre Test Information
Prior to taking the test, it is mandatory to fill the Genomics Clinical Information Requisition Form (Form 20).
Test Details
To diagnose myotonic dystrophy type 1, a combination of clinical evaluation, genetic testing, and electromyography (EMG) may be performed. Here are the common tests used in the diagnosis:
- Genetic testing: This is the most accurate way to diagnose myotonic dystrophy type 1. It involves analyzing a sample of blood or saliva to detect the presence of an abnormal expansion of CTG repeats in the DMPK gene.
- Clinical evaluation: A neurologist or geneticist will review the patient’s medical history, perform a physical examination, and assess symptoms such as muscle weakness, myotonia (delayed muscle relaxation), and other associated features like cataracts, cardiac abnormalities, or cognitive impairment.
- Electromyography (EMG): This test measures the electrical activity of muscles. It can help identify the characteristic myotonic discharges, which are abnormal electrical patterns seen in myotonic dystrophy type 1.
- Muscle biopsy: In some cases, a small sample of muscle tissue may be taken for examination under a microscope. This can help confirm the diagnosis by showing specific changes in the muscle fibers.
It is important to consult with a healthcare professional for a proper diagnosis and to discuss the appropriate tests based on individual symptoms and medical history.
Test Name | MYOTONIC DYSTROPHY TYPE 1 Test |
---|---|
Components | *DMPK Gene |
Price | 1400.0 AED |
Sample Condition | 4 mL (2 mL min.) whole blood from 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Report Delivery | SampleMon by 11 am; Report Fri |
Method | PCR, Fragment Analysis |
Test type | Neurologic Disorder |
Doctor | Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Test Details | To diagnose myotonic dystrophy type 1, a combination of clinical evaluation, genetic testing, and electromyography (EMG) may be performed. Here are some common tests used in the diagnosis: 1. Genetic testing: This is the most accurate way to diagnose myotonic dystrophy type 1. It involves analyzing a sample of blood or saliva to detect the presence of an abnormal expansion of CTG repeats in the DMPK gene. 2. Clinical evaluation: A neurologist or geneticist will review the patient’s medical history, perform a physical examination, and assess symptoms such as muscle weakness, myotonia (delayed muscle relaxation), and other associated features like cataracts, cardiac abnormalities, or cognitive impairment. 3. Electromyography (EMG): This test measures the electrical activity of muscles. It can help identify the characteristic myotonic discharges, which are abnormal electrical patterns seen in myotonic dystrophy type 1. 4. Muscle biopsy: In some cases, a small sample of muscle tissue may be taken for examination under a microscope. This can help confirm the diagnosis by showing specific changes in the muscle fibers. It is important to consult with a healthcare professional for a proper diagnosis and to discuss the appropriate tests based on individual symptoms and medical history. |