KDM5C Gene Mental Retardation X-Linked Syndromic Claes-Jensen Type NGS Genetic DNA Test
Comprehensive Genetic Testing for X-Linked Intellectual Disability
The KDM5C Gene Mental Retardation X-Linked Syndromic Claes-Jensen Type NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the KDM5C gene, which plays a critical role in brain development and cognitive function. Claes-Jensen syndrome, caused by KDM5C gene mutations, is a rare X-linked disorder characterized by significant intellectual disability and distinctive clinical features.
What Does This Test Measure?
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the KDM5C gene for pathogenic variants. The test detects:
- Point mutations and small insertions/deletions in the KDM5C gene
- Missense, nonsense, and frameshift mutations affecting protein function
- Variants associated with X-linked inheritance patterns
- Genetic alterations responsible for histone demethylase dysfunction
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Moderate to severe intellectual disability of unknown cause
- Developmental delays in childhood
- Speech and language impairment
- Distinctive facial features including prominent forehead and deep-set eyes
- Behavioral abnormalities including hyperactivity or autistic features
- Family history suggestive of X-linked inheritance pattern
- Unexplained neurological symptoms in males
Clinical Benefits of Genetic Testing
Undergoing the KDM5C genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Claes-Jensen syndrome with high precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Treatment Guidance: Helps develop targeted management strategies
- Early Intervention: Facilitates timely educational and therapeutic support
- Genetic Counseling: Provides basis for comprehensive family genetic assessment
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates the presence of a pathogenic KDM5C mutation, confirming Claes-Jensen syndrome diagnosis
- Negative Result: Suggests absence of detectable KDM5C mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for female relatives in X-linked inheritance patterns
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | KDM5C Gene Mental Retardation X-Linked Syndromic Claes-Jensen Type 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 | Neurology and Genetics |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
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 more cities. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our expert team of genetic counselors and neurologists is ready to guide you through the testing process and help interpret your results. Early genetic diagnosis can make a significant difference in management and family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your KDM5C genetic test consultation and take control of your genetic health journey.
Our dedicated patient coordinators are available to answer your questions, explain the testing process, and help you understand insurance coverage options. With our discounted pricing of $500 USD, advanced genetic testing is more accessible than ever for families across the United States.
