PTPN23 Gene Ciliogenesis Related Disorder NGS Genetic DNA Test
Comprehensive Genetic Analysis for Ciliary Disorders
The PTPN23 Gene Ciliogenesis Related Disorder NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals affected by ciliary disorders. This advanced test specifically targets the PTPN23 gene, which plays a critical role in ciliogenesis – the process of forming and maintaining cilia, the microscopic hair-like structures that extend from the surface of many human cells. These cilia are essential for numerous physiological functions, including respiratory clearance, hearing, and embryonic development.
What Does This Test Measure?
This comprehensive genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the complete coding region of the PTPN23 gene. The test detects:
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations (CNVs) affecting the PTPN23 gene
- Pathogenic mutations associated with ciliogenesis disorders
- Variants of uncertain significance that may require further investigation
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of ciliary dysfunction, including:
- Recurrent respiratory infections and chronic bronchitis
- Persistent sinusitis and nasal congestion
- Hearing loss or recurrent ear infections
- Infertility issues in males (related to sperm flagella dysfunction)
- Congenital heart defects
- Situs inversus (organs on opposite side of body)
- Family history of ciliary disorders or primary ciliary dyskinesia
- Unexplained neonatal respiratory distress
Clinical Benefits of Testing
Undergoing the PTPN23 Gene Ciliogenesis Related Disorder NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of ciliary dysfunction
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of associated health complications
- Comprehensive Analysis: NGS technology ensures thorough examination of the PTPN23 gene
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into one of these categories:
- Positive Result: Identifies a pathogenic mutation in the PTPN23 gene, confirming genetic diagnosis
- Negative Result: No disease-causing variants detected, though other genetic or environmental factors may be involved
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance is currently unknown
- Carrier Status: Identifies individuals who carry one copy of a mutated gene but may not show symptoms
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | PTPN23 Gene Ciliogenesis Related Disorder NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to PTPN23 gene ciliogenesis disorders
- Participation in a genetic counseling session to create a detailed family pedigree
- Documentation of family members affected by similar symptoms or diagnosed conditions
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or a family member are experiencing symptoms suggestive of ciliary dysfunction, don’t wait to get answers. Our comprehensive PTPN23 Gene Ciliogenesis Related Disorder NGS Genetic DNA Test provides the genetic insights needed for accurate diagnosis and effective management.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your health journey.
Our team of genetic specialists is ready to guide you through the testing process, from initial consultation to result interpretation and ongoing support. Book your test now and gain the genetic clarity you deserve.
