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Myotonic Dystrophy Type 2 Test Cost

Original price was: 1,690 د.إ.Current price is: 1,520 د.إ.

-10%

Myotonic Dystrophy Type 2, also known as DM2 or proximal myotonic myopathy (PROMM), is a genetic disorder characterized by muscle weakness and myotonia, which is an inability to relax muscles at will. This condition varies in its presentation and severity, affecting not only the muscles but potentially also the heart, endocrine system, and central nervous system. Unlike Myotonic Dystrophy Type 1, DM2 tends to have a later onset and often presents milder symptoms.

To diagnose Myotonic Dystrophy Type 2, a specific genetic test is conducted to identify the presence of a mutation in the CNBP (ZNF9) gene, which is the hallmark of DM2. This mutation involves an expansion of a CCTG repeat in the gene. The genetic test for DM2 is crucial for accurate diagnosis, guiding treatment options, and providing information on the genetic risk for family members.

In the United Arab Emirates, DNA Labs UAE offers a comprehensive testing service for Myotonic Dystrophy Type 2. The test is priced at 1520 AED, reflecting the specialized nature of the genetic analysis. Conducted in a state-of-the-art laboratory by skilled geneticists, the test involves collecting a DNA sample, usually through a blood draw or cheek swab, and analyzing it for the specific genetic mutation associated with DM2.

Upon completion, the test provides individuals and their healthcare providers with crucial information regarding the diagnosis, allowing for a better understanding of the condition and the development of a tailored management plan. This can include strategies to manage symptoms, monitor potential complications, and offer genetic counseling for affected individuals and their families.

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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.