LMNA Gene Hutchinson-Gilford Progeria NGS Genetic DNA Test
Understanding Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder characterized by rapid aging in children. This progressive condition affects approximately 1 in 4-8 million newborns worldwide and leads to premature aging symptoms that typically become apparent within the first two years of life. The LMNA Gene Hutchinson-Gilford Progeria NGS Genetic DNA Test represents a breakthrough in molecular diagnostics, providing precise detection capabilities for this devastating condition.
What is the LMNA Gene and Its Role in Progeria?
The LMNA gene encodes lamin A and lamin C proteins, which are essential structural components of the nuclear envelope in cells. In Hutchinson-Gilford Progeria Syndrome, a specific mutation in the LMNA gene leads to the production of an abnormal protein called progerin. This defective protein accumulates in cells and causes progressive damage to nuclear structure and function, ultimately resulting in the accelerated aging phenotype characteristic of progeria.
What Does This Test Detect?
Our advanced Next Generation Sequencing (NGS) technology provides comprehensive analysis of the LMNA gene to identify:
- Pathogenic variants in the LMNA gene associated with Hutchinson-Gilford Progeria Syndrome
- The specific c.1824C>T (p.Gly608Gly) mutation most commonly responsible for HGPS
- Other rare LMNA gene mutations that may cause progeria-like syndromes
- Genetic variations that could impact disease progression and management
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for children presenting with the following symptoms:
- Failure to thrive and growth retardation in early childhood
- Characteristic facial features including prominent eyes, thin nose, and small jaw
- Hair loss (alopecia) and absence of eyebrows and eyelashes
- Skin changes resembling aged skin with visible veins
- Joint stiffness and limited range of motion
- Cardiovascular complications typically seen in elderly individuals
- Delayed tooth eruption and dental abnormalities
- Family history of similar symptoms or confirmed progeria diagnosis
Key Benefits of LMNA Gene Testing
Comprehensive Diagnostic Advantages
Undergoing the LMNA Gene Hutchinson-Gilford Progeria NGS Genetic DNA Test provides numerous benefits:
- Accurate Diagnosis: Confirms or rules out Hutchinson-Gilford Progeria Syndrome with high precision
- Early Intervention: Enables timely medical management and specialized care planning
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Research Contribution: Helps advance scientific understanding of aging processes and genetic disorders
- Treatment Monitoring: Assists in evaluating the effectiveness of therapeutic interventions
- Psychological Support: Helps families understand the condition and access appropriate support services
Understanding Your Test Results
Interpreting Genetic Findings
Our comprehensive genetic counseling services help you understand your test results:
- Positive Result: Indicates the presence of a pathogenic LMNA gene mutation associated with Hutchinson-Gilford Progeria Syndrome. This confirms the diagnosis and enables targeted medical management.
- Negative Result: Suggests that no known pathogenic mutations were detected in the LMNA gene. However, clinical correlation with symptoms is essential.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research to determine their clinical significance.
- Carrier Status: In some cases, testing may reveal carrier status information relevant to family members.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | LMNA Gene Hutchinson-Gilford Progeria NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood or Extracted DNA or One drop Blood on FTA Card |
| Testing Method | Next Generation Sequencing (NGS) Technology |
| Specialty | Pediatric Genetics |
Pre-Test Requirements and Genetic Counseling
Before undergoing the LMNA Gene Hutchinson-Gilford Progeria NGS Genetic DNA Test, we require:
- Complete clinical history of the patient
- A comprehensive genetic counseling session
- Development of a detailed pedigree chart documenting family members affected by similar symptoms
- Informed consent process explaining test implications and potential outcomes
Nationwide Accessibility
We have branches across all major cities in the United States, making this essential genetic testing accessible to families nationwide. Our state-of-the-art facilities in New York, Los Angeles, Chicago, Houston, Phoenix, and other metropolitan areas ensure that you receive the highest quality genetic testing services with convenient local access.
Take Action Today
Early diagnosis of Hutchinson-Gilford Progeria Syndrome can significantly impact treatment outcomes and quality of life. Our expert team of genetic counselors and medical professionals is ready to guide you through the testing process and provide comprehensive support. Don’t wait to get the answers you need for your child’s health and future.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the LMNA Gene Hutchinson-Gilford Progeria NGS Genetic DNA Test. Our compassionate team is here to support you every step of the way.
