GLUL Gene Glutamine Deficiency Congenital NGS Genetic DNA Test
Understanding Congenital Glutamine Deficiency
Congenital glutamine deficiency is a rare autosomal recessive metabolic disorder caused by mutations in the GLUL gene, which encodes the enzyme glutamine synthetase. This essential enzyme plays a critical role in converting glutamate and ammonia into glutamine, one of the most abundant amino acids in the human body. Glutamine serves multiple vital functions, including neurotransmitter synthesis, immune system regulation, and maintaining acid-base balance. When the GLUL gene contains pathogenic variants, the body cannot produce sufficient glutamine, leading to severe neurological complications and metabolic disturbances that typically manifest in early infancy.
What This Advanced Genetic Test Detects
The GLUL Gene Glutamine Deficiency Congenital NGS Genetic DNA Test utilizes cutting-edge Next-Generation Sequencing technology to comprehensively analyze the entire GLUL gene for pathogenic mutations. This sophisticated testing approach examines:
- Point mutations and single nucleotide variants
- Small insertions and deletions (indels)
- Copy number variations affecting the GLUL gene
- Regulatory region abnormalities
- Splice site mutations that may affect gene expression
The test provides a complete genetic profile of the GLUL gene, enabling accurate diagnosis of congenital glutamine deficiency and helping to distinguish it from other metabolic disorders with similar clinical presentations.
Who Should Consider This Genetic Screening?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of congenital glutamine deficiency, including:
- Newborns with unexplained seizures or encephalopathy
- Infants displaying developmental delays and failure to thrive
- Children with neurological abnormalities and cognitive impairment
- Patients with family history of metabolic disorders or consanguineous parents
- Individuals with unexplained hyperammonemia or metabolic acidosis
- Patients with abnormal brain MRI findings suggestive of metabolic disease
Comprehensive Benefits of Early Detection
Early diagnosis through the GLUL Gene Glutamine Deficiency Test offers numerous advantages:
- Timely Intervention: Enables prompt initiation of glutamine supplementation therapy
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Treatment Guidance: Helps develop personalized management strategies
- Prognostic Information: Offers insights into disease progression and potential outcomes
- Differential Diagnosis: Distinguishes glutamine deficiency from other metabolic disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and metabolic specialists. Possible outcomes include:
- Positive Result: Identification of pathogenic mutations in the GLUL gene confirms congenital glutamine deficiency diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identification of genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Detection of single mutated copy in asymptomatic individuals
All positive results include detailed recommendations for management, treatment options, and family member testing considerations.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | GLUL Gene Glutamine Deficiency Congenital NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
Nationwide Accessibility and Support
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 facilities are equipped with state-of-the-art genetic testing technology and staffed by experienced genetic counselors and metabolic specialists.
Take the First Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of congenital glutamine deficiency, don’t delay in seeking proper diagnosis. Early detection can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to provide comprehensive testing, counseling, and support throughout your diagnostic journey.
Book your GLUL Gene Glutamine Deficiency Congenital NGS Genetic DNA Test today by calling our genetic counseling hotline at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with America’s leading metabolic genetics testing provider.
