PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Connective Tissue Disorders
The PYCR1 Gene Cutis Laxa Type 2B 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 collagen synthesis and connective tissue integrity. Cutis Laxa Type 2B is a rare autosomal recessive condition characterized by distinctive skin abnormalities and multisystem involvement, making accurate genetic diagnosis essential for proper management and treatment planning.
What This Test Measures and Detects
Our advanced NGS genetic test specifically targets the PYCR1 gene located on chromosome 17q25.3, which encodes the enzyme pyrroline-5-carboxylate reductase 1. This enzyme is crucial for proline synthesis, an essential amino acid for collagen formation and connective tissue stability. The test detects:
- Pathogenic variants in the PYCR1 gene associated with Cutis Laxa Type 2B
- Autosomal recessive inheritance patterns
- Missense, nonsense, frameshift, and splice-site mutations
- Compound heterozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of Cutis Laxa Type 2B, including:
- Loose, sagging, or inelastic skin that lacks resilience
- Premature aging appearance of the skin
- Joint hypermobility and skeletal abnormalities
- Developmental delays and growth retardation
- Characteristic facial features including down-slanting eyes and beaked nose
- Family history of connective tissue disorders
- Unexplained osteology, dermatology, or immunology symptoms
- Consanguineous parents or family history of autosomal recessive conditions
Clinical Benefits of PYCR1 Genetic Testing
Undergoing PYCR1 genetic testing provides numerous clinical advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out Cutis Laxa Type 2B with high accuracy
- Personalized Treatment: Enables targeted management strategies based on genetic findings
- Family Planning: Provides crucial information for reproductive decision-making
- Early Intervention: Facilitates proactive management of potential complications
- Genetic Counseling: Supports informed family discussions about inheritance risks
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results with detailed interpretation:
- Positive Result: Indicates the presence of pathogenic PYCR1 mutations consistent with Cutis Laxa Type 2B diagnosis
- Negative Result: Suggests absence of known pathogenic variants in the PYCR1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with single mutated copy who may pass the condition to offspring
All results include detailed clinical correlations and recommendations for follow-up care with genetic specialists and dermatologists.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | PYCR1 Gene Cutis Laxa Type 2B Autosomal Recessive NGS Genetic DNA Test | – |
| Discount Price | Special promotional rate | $500 |
| Regular Price | Standard testing fee | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options available | Blood, Extracted DNA, or One drop Blood on FTA Card |
Nationwide Testing Availability
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.
Pre-Test Requirements and Genetic Counseling
Prior to testing, we recommend:
- Comprehensive clinical history documentation of the patient
- Genetic counseling session to discuss testing implications
- Development of detailed pedigree chart documenting family members affected by PYCR1-related conditions
- Discussion of potential outcomes and their clinical significance
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our specialized PYCR1 genetic testing provides the clarity and answers you need for informed healthcare decisions. With our advanced NGS technology and expert genetic analysis, you can trust in accurate, reliable results that guide effective treatment strategies.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized care.
Our team of genetic specialists, dermatologists, and certified genetic counselors are ready to support you through every step of the testing process, from initial consultation to result interpretation and follow-up care planning.
