IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Skeletal Disorders
The IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the IFT122 gene, which plays a critical role in intraflagellar transport and ciliary function. This specialized genetic test is essential for diagnosing Cranioectodermal Dysplasia Type 1 (CED1), a rare autosomal recessive disorder characterized by distinctive craniofacial features, skeletal abnormalities, and ectodermal defects. Understanding the genetic basis of this condition is crucial for accurate diagnosis, proper medical management, and informed family planning decisions.
What Does This Test Measure and Detect?
This advanced genetic test specifically targets the IFT122 gene using Next-Generation Sequencing (NGS) technology to identify pathogenic variants, including:
- Point mutations and single nucleotide variants (SNVs)
- Small insertions and deletions (indels)
- Copy number variations (CNVs) affecting the IFT122 gene
- Missense, nonsense, and frameshift mutations
- Splice site variants affecting gene expression
The test provides comprehensive coverage of the entire IFT122 gene coding region, ensuring high sensitivity and specificity for detecting disease-causing mutations associated with Cranioectodermal Dysplasia Type 1.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with clinical features suggestive of Cranioectodermal Dysplasia Type 1, including:
- Infants and children with characteristic craniofacial abnormalities such as dolichocephaly, frontal bossing, and hypertelorism
- Individuals displaying skeletal dysplasia features including short limbs, narrow thorax, and brachydactyly
- Patients with ectodermal defects such as sparse hair, dental anomalies, and nail abnormalities
- Children experiencing developmental delays, growth retardation, or failure to thrive
- Individuals with a family history of Cranioectodermal Dysplasia or consanguineous parents
- Couples planning pregnancy with known family history of skeletal dysplasias
Key Benefits of IFT122 Genetic Testing
Undergoing the IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive molecular confirmation of Cranioectodermal Dysplasia Type 1, eliminating diagnostic uncertainty
- Personalized Treatment Planning: Enables targeted medical management and specialized care for affected individuals
- Genetic Counseling: Facilitates informed reproductive decisions and family planning for at-risk couples
- Early Intervention: Allows for timely implementation of supportive therapies and monitoring protocols
- Differential Diagnosis: Helps distinguish CED1 from other similar skeletal dysplasias and genetic conditions
- Research Contribution: Contributes to ongoing scientific understanding of ciliopathies and skeletal disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your test results with clarity and confidence:
- Positive Result: Identification of pathogenic mutations confirms the diagnosis of Cranioectodermal Dysplasia Type 1, enabling appropriate medical management and family screening
- Negative Result: Absence of detectable mutations in the IFT122 gene suggests alternative diagnoses should be considered, though does not completely rule out the condition
- Variant of Uncertain Significance (VUS): Some genetic changes may require additional family studies or functional analysis for proper interpretation
- Carrier Status: Identification of individuals carrying one copy of a mutated gene, important for reproductive counseling
Our genetic specialists provide detailed explanations of your results and their implications for your health and family planning.
Test Pricing and Sample Requirements
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | IFT122 Gene Cranioectodermal Dysplasia Type 1 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 |
Pre-Test Requirements and Preparation
To ensure optimal testing conditions and accurate results, please note the following requirements:
- Clinical History: Complete medical history of the patient undergoing testing
- Genetic Counseling Session: Pre-test genetic counseling to discuss testing implications and create a detailed family pedigree
- Informed Consent: Comprehensive understanding of test benefits, limitations, and potential outcomes
- Insurance Verification: Confirmation of insurance coverage or payment arrangements
Nationwide Accessibility and Convenience
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 more. Our network of certified collection centers ensures easy access to genetic testing services regardless of your location.
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 healthcare decisions. With advanced NGS technology and expert genetic analysis, we deliver reliable results you can trust.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your IFT122 Gene Cranioectodermal Dysplasia Type 1 NGS Genetic DNA Test. Our compassionate genetic specialists are ready to guide you through every step of the testing process and help you understand your results with clarity and confidence.
Take control of your genetic health today – accurate diagnosis leads to better outcomes and peace of mind for you and your family.
