PYCR1 Gene Cutis Laxa Type 3B Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Connective Tissue Disorders
The PYCR1 Gene Cutis Laxa Type 3B Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare connective tissue disorders. This specialized test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the PYCR1 gene, which plays a critical role in proline metabolism and collagen synthesis. Cutis Laxa Type 3B is a rare autosomal recessive condition characterized by distinctive skin abnormalities, skeletal defects, and immunological challenges that can significantly impact quality of life.
What This Advanced Genetic Test Detects
Our comprehensive NGS genetic analysis specifically targets the PYCR1 gene, which encodes pyrroline-5-carboxylate reductase 1 – an essential enzyme in proline biosynthesis. The test identifies:
- Pathogenic variants and mutations in the PYCR1 gene
- Autosomal recessive inheritance patterns
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions, deletions, and frameshift mutations
- Compound heterozygous mutations in affected individuals
Who Should Consider PYCR1 Genetic Testing?
This specialized genetic test is recommended for individuals presenting with the following clinical features:
- Dermatological Symptoms: Loose, sagging, or inelastic skin that lacks normal resilience
- Skeletal Abnormalities: Joint hypermobility, scoliosis, or bone development issues
- Developmental Concerns: Growth retardation, delayed motor milestones, or intellectual disability
- Facial Features: Characteristic facial appearance with aged-looking skin
- Family History: Known cases of Cutis Laxa or connective tissue disorders in relatives
- Unexplained Symptoms: Multiple system involvement affecting skin, bones, and immune function
Significant Benefits of Early Genetic Diagnosis
Undergoing PYCR1 genetic testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out Cutis Laxa Type 3B with high accuracy
- Personalized Treatment: Enables targeted management strategies for skin, bone, and immune complications
- Reproductive Planning: Provides crucial information for family planning and genetic counseling
- Early Intervention: Facilitates proactive monitoring and preventive care measures
- Family Screening: Identifies at-risk relatives who may benefit from genetic testing
- Research Contribution: Helps advance understanding of rare genetic disorders
Understanding Your Genetic Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies pathogenic mutations in both PYCR1 gene copies, confirming Cutis Laxa Type 3B diagnosis
- Carrier Status: Detects single mutation carriers who are typically asymptomatic but can pass the condition to offspring
- Negative Result: No pathogenic mutations found, significantly reducing likelihood of PYCR1-related Cutis Laxa
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
All results include detailed interpretation by our board-certified genetic counselors and clinical geneticists, ensuring you receive comprehensive guidance for next steps.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our PYCR1 Gene Cutis Laxa Type 3B NGS Genetic DNA Test provides the answers you need for informed medical management and family planning. With results available in just 3-4 weeks from blood or DNA samples, you can quickly gain the genetic insights necessary for optimal healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are available to discuss your specific concerns and guide you through the testing process.
