PTPN14 Gene Choanal Atresia and Lymphedema NGS Genetic DNA Test
Comprehensive Genetic Analysis for Hereditary Disorders
The PTPN14 Gene Choanal Atresia and Lymphedema NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with rare hereditary conditions affecting multiple body systems. This sophisticated test utilizes next-generation sequencing technology to provide comprehensive analysis of the PTPN14 gene, which plays a critical role in embryonic development and lymphatic system function.
What This Test Measures and Detects
This advanced genetic test specifically targets the PTPN14 gene, analyzing its complete coding sequence to identify:
- Pathogenic variants associated with choanal atresia
- Mutations linked to hereditary lymphedema
- Single nucleotide polymorphisms (SNPs) affecting protein function
- Insertions, deletions, and copy number variations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Newborns with breathing difficulties or nasal obstruction
- Patients with unexplained swelling in limbs or other body parts
- Individuals with family history of choanal atresia or lymphedema
- Children with developmental delays affecting facial structures
- Patients with recurrent infections or immune system abnormalities
- Individuals with suspected genetic syndromes involving multiple systems
Clinical Benefits of Genetic Testing
Undergoing the PTPN14 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out genetic causes of symptoms
- Personalized Treatment: Enables targeted therapeutic approaches
- Family Planning: Provides information for reproductive decisions
- Early Intervention: Facilitates timely management strategies
- Risk Assessment: Identifies potential health risks in family members
- Peace of Mind: Reduces uncertainty about hereditary conditions
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates the presence of a pathogenic variant in the PTPN14 gene, confirming genetic predisposition to the associated conditions
- Negative Result: Suggests no detectable mutations in the analyzed gene regions
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if you carry a single copy of a mutated gene
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | PTPN14 Gene Choanal Atresia and Lymphedema 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 |
| Specialty | Dermatology, Genetics |
| Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to PTPN14-related conditions
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by similar conditions
- Medical records documenting symptoms and previous evaluations
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about hereditary conditions affect your health decisions. Our comprehensive PTPN14 genetic testing provides the answers you need for informed medical care and family planning. With our discounted pricing and nationwide availability, accessing advanced genetic testing has never been more convenient.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with confidence and clarity.
