MYOTONIC DYSTROPHY TYPE 2 Test
Test Name: MYOTONIC DYSTROPHY TYPE 2 Test
Components: ZFN9 Gene
Price: 1520.0 AED
Sample Condition: 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Report Delivery: Sample Mon 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:
The diagnosis of myotonic dystrophy type 2 (DM2) is typically made through a combination of clinical symptoms, family history, and genetic testing.
Clinical Symptoms:
DM2 is characterized by muscle weakness and stiffness, primarily affecting the muscles of the face, neck, and extremities. Other symptoms may include muscle pain, difficulty swallowing, cataracts, heart abnormalities, and cognitive impairment. A physical examination and assessment of symptoms by a healthcare professional can help in the initial evaluation.
Family History:
DM2 is an inherited condition, so a family history of the disease can provide important clues for diagnosis. If multiple family members have been diagnosed with DM2 or have similar symptoms, it increases the suspicion for the condition.
Genetic Testing:
Genetic testing is the most definitive way to diagnose DM2. It involves analyzing a blood or saliva sample to identify the presence of an abnormal expansion of a specific section of the genetic code known as the CCTG repeat in the CNBP gene. This genetic test can confirm the diagnosis and determine the size of the repeat expansion, which may correlate with the severity of the disease. It is important to consult with a healthcare professional, such as a neurologist or geneticist, who specializes in neuromuscular disorders for an accurate diagnosis of DM2.
Test Name | MYOTONIC DYSTROPHY TYPE 2 Test |
---|---|
Components | *ZFN9 Gene |
Price | 1520.0 AED |
Sample Condition | 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Report Delivery | Sample Mon 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 | The diagnosis of myotonic dystrophy type 2 (DM2) is typically made through a combination of clinical symptoms, family history, and genetic testing. Clinical Symptoms: DM2 is characterized by muscle weakness and stiffness, primarily affecting the muscles of the face, neck, and extremities. Other symptoms may include muscle pain, difficulty swallowing, cataracts, heart abnormalities, and cognitive impairment. A physical examination and assessment of symptoms by a healthcare professional can help in the initial evaluation. Family History: DM2 is an inherited condition, so a family history of the disease can provide important clues for diagnosis. If multiple family members have been diagnosed with DM2 or have similar symptoms, it increases the suspicion for the condition. Genetic Testing: Genetic testing is the most definitive way to diagnose DM2. It involves analyzing a blood or saliva sample to identify the presence of an abnormal expansion of a specific section of the genetic code known as the CCTG repeat in the CNBP gene. This genetic test can confirm the diagnosis and determine the size of the repeat expansion, which may correlate with the severity of the disease. It is important to consult with a healthcare professional, such as a neurologist or geneticist, who specializes in neuromuscular disorders for an accurate diagnosis of DM2. |