IFT43 Gene Cranioectodermal Dysplasia Type 3 NGS Genetic DNA Test
Comprehensive Genetic Testing for Sensenbrenner Syndrome
The IFT43 Gene Cranioectodermal Dysplasia Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with Sensenbrenner syndrome, a rare genetic disorder characterized by distinctive craniofacial, skeletal, and ectodermal abnormalities. This comprehensive genetic analysis utilizes next-generation sequencing technology to provide accurate and reliable results for patients and families affected by this complex condition.
What Does This Test Measure?
This advanced genetic test specifically targets the IFT43 gene, which plays a critical role in intraflagellar transport – a fundamental cellular process essential for proper cilia formation and function. The test detects:
- Pathogenic variants and mutations in the IFT43 gene
- Single nucleotide polymorphisms (SNPs) associated with cranioectodermal dysplasia
- Deletions, insertions, and other structural variations
- Compound heterozygous mutations that may cause the disorder
By analyzing the complete coding region and splice sites of the IFT43 gene, this test provides comprehensive coverage to identify both known and novel mutations responsible for Sensenbrenner syndrome.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with characteristic symptoms of cranioectodermal dysplasia type 3, including:
- Infants and children with dolichocephaly (long, narrow head shape)
- Patients displaying ectodermal dysplasia features such as sparse hair, dental anomalies, and nail abnormalities
- Individuals with skeletal abnormalities including narrow chest, short limbs, and brachydactyly
- Children experiencing growth retardation and developmental delays
- Patients with renal involvement or hepatic fibrosis
- Individuals with a family history of Sensenbrenner syndrome or similar craniofacial disorders
Clinical Benefits of Genetic Testing
Undergoing the IFT43 Gene Cranioectodermal Dysplasia Type 3 NGS Genetic DNA Test offers numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Sensenbrenner syndrome, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables healthcare providers to develop targeted management strategies based on specific genetic findings
- Family Planning Guidance: Offers crucial information for genetic counseling and recurrence risk assessment
- Early Intervention: Facilitates timely implementation of supportive therapies and monitoring protocols
- Comprehensive Care Coordination: Supports multidisciplinary approach involving genetics, pediatrics, orthopedics, and other specialties
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results with clinical context:
- Positive Result: Identification of pathogenic mutations confirms the diagnosis of cranioectodermal dysplasia type 3 and guides appropriate medical management
- Negative Result: Absence of detectable mutations in the IFT43 gene suggests alternative diagnoses should be considered
- Variant of Uncertain Significance (VUS): Some genetic changes may require additional family studies or functional analysis for proper interpretation
- Carrier Status: Identification of individuals who carry one copy of a mutated gene but may not show symptoms
All results are accompanied by detailed explanations and recommendations for next steps, with genetic counseling available to help you understand the implications for your health and family.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | IFT43 Gene Cranioectodermal Dysplasia Type 3 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 | Pediatrics |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Dysmorphology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create a detailed pedigree chart documenting family members affected by IFT43-related conditions
- Informed consent for genetic testing and result disclosure
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations 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 of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your family’s health and future. Our IFT43 Gene Cranioectodermal Dysplasia Type 3 NGS Genetic DNA Test provides the answers you need for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and book your test. Our dedicated team is ready to guide you through the testing process and help you understand how genetic insights can transform your healthcare journey.
Take control of your genetic health with the most advanced diagnostic technology available. Contact us now to begin your path to genetic clarity and comprehensive medical management.
