Maternal UPD Chromosome 14 Gene Temple Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Temple Syndrome
The Maternal UPD Chromosome 14 Gene Temple Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare developmental disorders. This advanced test specifically targets uniparental disomy of chromosome 14 (UPD14), a genetic condition where both copies of chromosome 14 are inherited from the mother rather than one from each parent. Temple syndrome, also known as maternal UPD14 syndrome, is a rare genetic disorder characterized by distinctive physical features, developmental delays, and growth abnormalities that require specialized medical attention and management.
What This Test Measures and Detects
This sophisticated genetic test utilizes next-generation sequencing (NGS) technology to precisely identify:
- Maternal uniparental disomy of chromosome 14 (UPD14)
- Genetic imprinting abnormalities on chromosome 14
- Specific gene expression patterns associated with Temple syndrome
- Epigenetic modifications affecting chromosome 14
- Parental origin of chromosome 14 copies
The test examines critical regions on chromosome 14, including the DLK1-DIO3 imprinted region, which plays a crucial role in normal growth and development. By analyzing these genetic markers, the test provides definitive diagnosis for Temple syndrome and helps distinguish it from other similar genetic conditions.
Who Should Consider This Test
This genetic test is recommended for individuals displaying symptoms consistent with Temple syndrome, including:
- Infants and children with early-onset obesity
- Individuals with feeding difficulties during infancy
- Children experiencing developmental delays and learning disabilities
- Patients with distinctive facial features (small hands and feet, prominent forehead)
- Individuals with growth abnormalities and short stature
- Children with hypotonia (low muscle tone) and motor delays
- Patients with behavioral issues and social difficulties
- Individuals with a family history suggestive of genetic imprinting disorders
Benefits of Taking the Test
Undergoing the Maternal UPD Chromosome 14 Gene Temple Syndrome NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive confirmation of Temple syndrome, eliminating diagnostic uncertainty
- Early Intervention: Enables timely medical management and therapeutic interventions
- Family Planning Guidance: Offers valuable information for genetic counseling and family planning decisions
- Personalized Treatment: Facilitates development of customized care plans based on genetic findings
- Educational Support: Helps secure appropriate educational resources and support services
- Medical Monitoring: Guides ongoing medical surveillance for associated health conditions
- Psychological Relief: Provides answers and reduces anxiety for families seeking diagnosis
Understanding Your Test Results
Your test results will be carefully interpreted by our team of genetic specialists and provided with comprehensive guidance:
- Positive Result: Confirms the presence of maternal UPD14, indicating Temple syndrome diagnosis
- Negative Result: Rules out maternal UPD14 as the cause of symptoms
- Inconclusive Result: May require additional testing or family member analysis
- Variant of Unknown Significance: Identifies genetic changes requiring further investigation
All positive results include detailed genetic counseling to help you understand the implications, inheritance patterns, and management strategies. Our genetic counselors will explain the results in clear, understandable terms and provide guidance on next steps for medical care and family planning.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | Maternal UPD Chromosome 14 Gene Temple Syndrome 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Pediatric Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled
- Pedigree chart of family members affected by or suspected of Temple syndrome
- Relevant medical records and previous test results
Nationwide Availability
We have branches across the United States, making genetic testing accessible to patients in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. The Maternal UPD Chromosome 14 Gene Temple Syndrome NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. Our team of genetic specialists is ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take control of your genetic health with confidence and clarity.
