PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 NGS Genetic DNA Test
Introduction
The PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 NGS Genetic DNA Test is a cutting-edge diagnostic tool that plays a crucial role in identifying genetic disorders related to primordial dwarfism. This test employs Next-Generation Sequencing (NGS) technology to analyze the PCNT gene, which is linked to microcephalic osteodysplastic primordial dwarfism type 2, a rare genetic condition characterized by significant growth impairment and skeletal anomalies.
What the Test Measures
This genetic test specifically measures mutations in the PCNT gene. By identifying these mutations, healthcare providers can determine the likelihood of developing related health issues and provide tailored management strategies for affected individuals.
Who Should Consider This Test?
Individuals and families with a history of primordial dwarfism or related symptoms should consider this test. Symptoms to watch for include:
- Significantly reduced height
- Microcephaly (smaller than average head size)
- Distinctive skeletal features
- Developmental delays
Risk factors include family history of genetic disorders, particularly those related to growth and development.
Benefits of Taking the Test
- Early diagnosis of genetic conditions
- Guidance on management and treatment options
- Informed family planning decisions
- Access to specialized care and support services
Understanding Your Results
Results from the PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 NGS Genetic DNA Test will provide insights into the presence of mutations in the PCNT gene. A genetic counseling session is recommended to help interpret the results and discuss potential implications for the individual and their family.
Test Pricing
Price Type | Price (KSh) |
---|---|
Discount Price | 40,000 |
Regular Price | 56,000 |
Branch Availability and Booking
We have branches across all major cities in Kenya, ensuring easy access to our services. We also offer home sample collection for your convenience. To book the PCNT Gene Microcephalic Osteodysplastic Primordial Dwarfism Type 2 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.