PEPD Gene Prolidase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The PEPD Gene Prolidase Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the PEPD gene, which encodes the enzyme prolidase. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the entire PEPD gene, enabling precise detection of pathogenic variants associated with prolidase deficiency. As a rare autosomal recessive metabolic disorder, prolidase deficiency affects collagen metabolism and can lead to significant clinical manifestations requiring accurate diagnosis and targeted management strategies.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the PEPD gene located on chromosome 19, which plays a critical role in the final step of collagen degradation. The test detects:
- Pathogenic variants and mutations in the PEPD gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Insertions, deletions, and frameshift mutations
- Missense and nonsense mutations impacting prolidase activity
- Compound heterozygous and homozygous mutations
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
Individuals presenting with the following symptoms should consider the PEPD Gene Prolidase Deficiency NGS Genetic DNA Test:
- Chronic skin ulcers, particularly on the lower extremities
- Recurrent skin infections and delayed wound healing
- Developmental delays and intellectual disability
- Characteristic facial features including prominent forehead and hypertelorism
- Splenomegaly and recurrent respiratory infections
- Family history of prolidase deficiency or consanguineous parents
- Unexplained dermatological manifestations in pediatric patients
Benefits of Taking the PEPD Genetic Test
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out prolidase deficiency with high precision
- Early Intervention: Enables timely management strategies before severe complications develop
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on specific genetic variants
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and interpreted by our expert genetic counselors and medical geneticists:
- Positive Result: Identification of pathogenic mutations confirms prolidase deficiency diagnosis
- Negative Result: No detected mutations significantly reduce the likelihood of prolidase deficiency
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for next steps, including consultation with metabolic specialists and implementation of appropriate management strategies.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PEPD Gene Prolidase Deficiency NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatrics and Genetics |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart of family members affected by or at risk for prolidase deficiency
- Informed consent for genetic testing and result disclosure
- Insurance pre-authorization if applicable
Nationwide Testing Availability
We proudly offer the PEPD Gene Prolidase Deficiency NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories and collection centers are conveniently located in major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and the Midwest
- Houston and Texas metropolitan areas
- Miami and Florida locations
- Seattle and Pacific Northwest facilities
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. The PEPD Gene Prolidase Deficiency NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process.
Ready to schedule your test? Contact us today at +1(267) 388-9828 or book your appointment online. Our dedicated team is committed to providing comprehensive genetic testing services with compassion, expertise, and the highest standards of accuracy.
