ARSE Gene Chondrodysplasia Punctata X-Linked Recessive NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bone and Skin Disorders
The ARSE Gene Chondrodysplasia Punctata X-Linked Recessive NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the ARSE (arylsulfatase E) gene, which plays a critical role in skeletal development and metabolic processes. This specialized genetic test provides definitive answers for families affected by X-linked recessive chondrodysplasia punctata, a rare genetic disorder characterized by distinctive bone abnormalities and associated symptoms.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based analysis specifically targets the ARSE gene located on the X chromosome, identifying pathogenic variants that disrupt normal sulfatase enzyme function. The test detects:
- Point mutations, insertions, and deletions in the ARSE gene
- Missense, nonsense, and frameshift mutations affecting enzyme activity
- Genetic variations responsible for impaired cartilage and bone development
- Mutations leading to abnormal calcification patterns in growing bones
- Genetic markers associated with the characteristic “stippled epiphyses” appearance
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with the following clinical features:
- Newborns or children with characteristic stippled calcifications in bones (chondrodysplasia punctata)
- Individuals with ichthyosis (scaly skin) or other dermatological abnormalities
- Patients with cataracts or other ocular abnormalities present at birth
- Those exhibiting skeletal dysplasia, short stature, or asymmetric limb shortening
- Individuals with a family history of X-linked recessive bone disorders
- Males with characteristic facial features including flat nasal bridge and hypertelorism
- Patients with recurrent respiratory infections or immune system concerns
Significant Benefits of Genetic Testing
Undergoing the ARSE Gene Chondrodysplasia Punctata test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive confirmation of X-linked recessive chondrodysplasia punctata
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Personalized Treatment: Facilitates targeted management strategies for bone, skin, and immune manifestations
- Early Intervention: Allows for proactive monitoring and intervention for potential complications
- Genetic Counseling: Supports comprehensive family risk assessment and inheritance pattern understanding
- Research Contribution: Contributes to ongoing medical research and understanding of rare genetic disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results with clear guidance:
- Positive Result: Indicates the presence of a pathogenic ARSE gene mutation, confirming the diagnosis of X-linked recessive chondrodysplasia punctata
- Negative Result: Suggests no detectable mutation in the ARSE gene, though clinical correlation with symptoms is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further evaluation and family studies
- Carrier Status: For female relatives, identifies carrier status and transmission risk to offspring
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing and Details
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | ARSE Gene Chondrodysplasia Punctata X-Linked Recessive NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $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 |
Convenient Nationwide Access
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services regardless of your location.
Pre-Test Preparation Requirements
To ensure optimal testing accuracy and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to develop a detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Relevant medical records and previous test results
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized genetic testing provides the answers you need for informed medical decisions and comprehensive care planning. Our team of genetic specialists, dermatologists, and bone disorder experts are ready to support you through every step of the testing process.
Ready to schedule your genetic test? Contact us today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
