GMPPA Gene Alacrima Achalasia and Mental Retardation Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for AAMR Syndrome
The GMPPA Gene NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare genetic disorders. This advanced testing method specifically targets mutations in the GMPPA gene, which encodes GDP-mannose pyrophosphorylase A, an essential enzyme involved in protein glycosylation pathways. When this gene malfunctions, it disrupts normal cellular processes, leading to the characteristic symptoms of Alacrima Achalasia and Mental Retardation Syndrome.
What Does This Test Measure?
Our state-of-the-art Next-Generation Sequencing technology comprehensively analyzes the entire GMPPA gene to identify:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations affecting gene function
- Pathogenic variants associated with AAMR syndrome
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with the following clinical features:
Primary Symptoms
- Alacrima (Absence of Tears): Inability to produce tears, leading to chronic eye irritation and vision problems
- Achalasia: Difficulty swallowing due to impaired esophageal muscle function
- Developmental Delays: Intellectual disability and cognitive impairment
Additional Clinical Indicators
- Family history of similar symptoms
- Unexplained developmental regression in childhood
- Multiple family members with neurological or gastrointestinal issues
- Consanguineous parentage increasing genetic risk
Significant Benefits of Early Genetic Diagnosis
Medical Management Advantages
- Targeted Treatment Planning: Enables development of personalized care strategies for symptom management
- Early Intervention: Facilitates timely implementation of supportive therapies and educational support
- Comprehensive Care Coordination: Helps assemble multidisciplinary medical teams including gastroenterologists, ophthalmologists, and neurologists
Family and Genetic Counseling Benefits
- Accurate Genetic Counseling: Provides definitive information for family planning decisions
- Carrier Testing: Enables testing of siblings and relatives for carrier status
- Prenatal Diagnosis: Offers options for future pregnancies through prenatal testing
Understanding Your Test Results
Possible Result Interpretations
- Positive Result: Identifies pathogenic mutations in the GMPPA gene, confirming AAMR syndrome diagnosis
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact requiring further evaluation
Post-Test Guidance
Our genetic counseling team provides comprehensive result interpretation and guidance on:
- Medical management recommendations based on genetic findings
- Family member testing options
- Long-term monitoring and follow-up care
- Support resources and patient advocacy groups
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | GMPPA Gene Alacrima Achalasia and Mental Retardation Syndrome 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 |
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 collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our expert genetic counseling team is ready to guide you through the testing process and provide the answers you need for informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your GMPPA Gene NGS DNA Test. Take control of your genetic health with confidence and clarity.
