SLC35A3 Gene Arthrogryposis Mental Retardation and Seizures NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurodevelopmental Disorders
The SLC35A3 Gene Arthrogryposis Mental Retardation and Seizures NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare neurodevelopmental conditions. This advanced genetic test utilizes Next Generation Sequencing (NGS) technology to provide comprehensive analysis of the SLC35A3 gene, which plays a critical role in cellular transport mechanisms and neurological development.
What Does This Test Measure?
This specialized genetic test specifically targets mutations and variations in the SLC35A3 gene, which encodes for a nucleotide sugar transporter protein essential for proper glycosylation processes. The test examines:
- Complete coding sequence analysis of the SLC35A3 gene
- Detection of point mutations, insertions, and deletions
- Identification of pathogenic variants associated with arthrogryposis
- Assessment of genetic markers linked to intellectual disability
- Evaluation of seizure-associated genetic factors
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with the following clinical features:
Primary Indications
- Infants and children with congenital joint contractures (arthrogryposis)
- Patients with unexplained developmental delays and intellectual disability
- Individuals experiencing recurrent seizures or epilepsy of unknown origin
- Families with history of neurodevelopmental disorders
- Patients with suspected genetic syndromes involving multiple systems
Clinical Symptoms That Warrant Testing
- Multiple joint contractures present at birth
- Progressive intellectual disability
- Treatment-resistant seizure disorders
- Abnormal muscle tone and movement disorders
- Developmental regression in early childhood
- Family history of similar neurological conditions
Benefits of SLC35A3 Genetic Testing
Accurate Diagnosis and Prognosis
This test provides definitive molecular diagnosis, eliminating the need for multiple diagnostic procedures and reducing diagnostic uncertainty. Early identification allows for appropriate medical management and intervention strategies.
Family Planning and Genetic Counseling
Understanding the genetic basis of the condition enables informed family planning decisions and provides recurrence risk information for future pregnancies. Our genetic counseling services help families understand the implications of test results.
Personalized Treatment Approaches
Genetic findings can guide targeted therapeutic interventions and help avoid unnecessary treatments. Specific genetic information may influence medication choices and management strategies for associated symptoms.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of pathogenic variants in the SLC35A3 gene consistent with the clinical diagnosis. Our genetic counselors will provide comprehensive explanation of the findings and their implications for medical management.
Negative Result Considerations
A negative result does not completely rule out the condition, as there may be other genetic or environmental factors involved. Further testing or clinical evaluation may be recommended based on individual circumstances.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance (VUS). In such cases, additional family studies or periodic re-evaluation may be suggested as genetic knowledge evolves.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | SLC35A3 Gene Arthrogryposis Mental Retardation and Seizures 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 | Genetic Neurology, Dermatology, Immunology |
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Genetic counseling session scheduled
- Pedigree chart of affected family members
- Relevant medical records and previous test results
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures accessibility and consistent quality standards nationwide.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms consistent with SLC35A3-related disorders, don’t delay in seeking genetic clarification. Early diagnosis can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to assist you through every step of the testing process.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your SLC35A3 Gene Test. Our genetic counselors are available to answer your questions and guide you through the testing process.
Take control of your genetic health journey with comprehensive, accurate, and reliable genetic testing from America’s leading diagnostic provider. Your path to clarity begins with a single phone call.
