Pik3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome NGS Genetic DNA Test
Introduction
The Pik3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome NGS Genetic DNA Test is an advanced diagnostic tool that plays a vital role in identifying genetic disorders associated with dysmorphology. This test employs Next Generation Sequencing (NGS) technology to thoroughly analyze the PIK3R2 gene, which is implicated in various developmental anomalies.
What the Test Measures
This test specifically detects mutations in the PIK3R2 gene that may lead to conditions such as megalencephaly, polymicrogyria, polydactyly, and hydrocephalus. By examining the genetic makeup, healthcare providers can better understand the underlying causes of these conditions.
Who Should Consider This Test
This test is recommended for individuals who exhibit symptoms of dysmorphology, including:
- Megalencephaly (enlarged brain)
- Polymicrogyria (abnormal brain folds)
- Polydactyly (extra fingers or toes)
- Hydrocephalus (excess cerebrospinal fluid)
Patients with a family history of these conditions or those who have received a clinical diagnosis of related disorders should also consider this test.
Benefits of Taking the Test
- Provides clarity on genetic conditions affecting the patient.
- Guides treatment options and management strategies.
- Offers valuable information for family planning and genetic counseling.
- Enables early intervention and support for affected individuals.
Understanding Your Results
Results from the Pik3R2 Gene test will typically be available within 3 to 4 weeks. A genetic counseling session is recommended to help interpret the results and discuss potential implications for the patient and their family. Understanding these results can empower families to make informed decisions regarding their health and care.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Pik3R2 Gene Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Branches and Booking
We have branches across all major cities in Kenya including Nairobi, Mombasa, and Kisumu. Additionally, we offer home sample collection services for your convenience. To book your test or for more information, please call or WhatsApp us at +254713408028.