SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Metabolic Disorders
The SLC6A8 Gene Creatine Deficiency Syndrome X-Linked NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets mutations in the SLC6A8 gene, which plays a critical role in creatine transport across the blood-brain barrier. Creatine is essential for energy metabolism in brain cells, and deficiencies can lead to significant neurological impairments.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test examines the entire SLC6A8 gene sequence to identify pathogenic variants responsible for X-linked cerebral creatine deficiency syndrome. The test specifically detects:
- Point mutations and single nucleotide variants in the SLC6A8 gene
- Small insertions and deletions affecting gene function
- Splice site mutations that disrupt normal protein production
- Frameshift mutations leading to premature stop codons
- Missense mutations affecting creatine transporter function
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Males with unexplained developmental delays and intellectual disabilities
- Children experiencing speech and language impairments
- Individuals with seizures or epilepsy of unknown origin
- Patients with behavioral disorders including autism spectrum features
- Those with family history of X-linked intellectual disability
- Individuals with abnormal brain creatine levels on MR spectroscopy
- Patients with suspected metabolic disorders affecting neurological function
Significant Benefits of Genetic Testing
Undergoing the SLC6A8 genetic test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out X-linked cerebral creatine deficiency syndrome
- Personalized Treatment: Enables targeted therapeutic interventions including creatine supplementation
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management strategies to optimize developmental outcomes
- Carrier Detection: Identifies female carriers who may pass the condition to their children
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results with professional interpretation:
- Positive Result: Indicates the presence of a pathogenic mutation in the SLC6A8 gene, confirming the diagnosis of X-linked cerebral creatine deficiency syndrome. This result enables targeted treatment planning and family genetic counseling.
- Negative Result: Suggests that no disease-causing mutations were detected in the SLC6A8 gene. However, clinical correlation remains essential as other genetic or metabolic conditions may produce similar symptoms.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications. Additional family studies or functional testing may be recommended for clarification.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before undergoing testing, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Discussion of potential implications for family members
- Understanding of test limitations and possible outcomes
Nationwide Testing Availability
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 accessibility and convenience for patients nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our SLC6A8 Gene Creatine Deficiency Syndrome X-Linked 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 test consultation and take control of your genetic health journey.
Our experienced genetic counselors and medical professionals are ready to guide you through the testing process, answer your questions, and provide the comprehensive support you deserve. Book your test today and move forward with confidence in your genetic health management.
