RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant NGS Genetic DNA Test
Introduction
The RRM2B Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 5 Autosomal Dominant NGS Genetic DNA Test is a specialized genetic test that plays a vital role in diagnosing specific neurological disorders. This test utilizes Next Generation Sequencing (NGS) technology to identify mutations in the RRM2B gene, which are known to cause progressive external ophthalmoplegia (PEO). PEO is characterized by muscle weakness and paralysis of the eye muscles, leading to difficulties in eye movement.
What the Test Measures
This genetic test specifically detects mutations in the RRM2B gene. By identifying these mutations, healthcare providers can better understand the underlying causes of PEO and related mitochondrial disorders.
Who Should Consider This Test
Individuals who may benefit from this test include:
- Those with a family history of progressive external ophthalmoplegia or related neurological disorders.
- Patients exhibiting symptoms such as ptosis (drooping eyelids), ophthalmoplegia (eye muscle paralysis), and muscle weakness.
- Individuals who have undergone previous genetic testing with inconclusive results.
Benefits of Taking the Test
Taking the RRM2B Gene Progressive External Ophthalmoplegia test offers numerous benefits, including:
- Early diagnosis of genetic conditions, allowing for timely interventions.
- Personalized management plans tailored to the individual’s specific genetic profile.
- Informed family planning for those with a family history of the disorder.
- Access to genetic counseling services for better understanding and support.
Understanding Your Results
Upon receiving your test results, a healthcare professional will guide you through their interpretation. Positive results may indicate the presence of mutations associated with PEO, while negative results can provide reassurance. It is essential to discuss the implications of your results with a qualified genetic counselor or neurologist.
Test Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| RRM2B Gene Progressive External Ophthalmoplegia Test | 40,000 | 56,000 |
Branches and Booking
We have branches across all major cities in Kenya, including Nairobi, Mombasa, Kisumu, and more. Our expert team is ready to assist you with the RRM2B Gene Progressive External Ophthalmoplegia test. To book your test or for more information, please call or WhatsApp us at +254713408028.
Pre-Test Instructions
Before undergoing the RRM2B Gene Progressive External Ophthalmoplegia test, it is essential to have:
- A clinical history of the patient who is undergoing testing.
- A genetic counseling session to draw a pedigree chart of family members affected by the disorder.
With our advanced NGS technology and dedicated team, DNA Labs Kenya is committed to providing you with the highest quality genetic testing services.
