ASAH1 Gene Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ASAH1 Gene Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test utilizes next-generation sequencing technology to identify mutations in the ASAH1 gene, which encodes the enzyme acid ceramidase. Deficiencies in this enzyme lead to the accumulation of ceramide, causing progressive neurological deterioration characterized by both spinal muscular atrophy and myoclonic epilepsy.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets:
- Complete sequencing of the ASAH1 gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) and copy number variations (CNVs)
- Identification of both inherited and de novo mutations
- Assessment of carrier status for family planning purposes
- Evaluation of genotype-phenotype correlations for prognosis
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with:
- Progressive muscle weakness and wasting (spinal muscular atrophy symptoms)
- Myoclonic seizures or progressive epilepsy
- Developmental regression in childhood
- Family history of similar neurological conditions
- Unexplained neurological deterioration with combined motor and seizure symptoms
- Children with suspected Farber disease or related ceramide metabolism disorders
Clinical Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through this test provides numerous advantages:
- Accurate diagnosis enabling targeted treatment approaches
- Improved disease management and symptom control
- Genetic counseling for family planning decisions
- Early intervention strategies to slow disease progression
- Eligibility for clinical trials and emerging therapies
- Psychological relief from diagnostic uncertainty
- Comprehensive family risk assessment
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic ASAH1 gene mutations. Our genetic counselors will explain the implications for disease management and family inheritance patterns.
- Negative Result: No disease-causing mutations detected in the ASAH1 gene. However, other genetic causes may need investigation.
- Variant of Uncertain Significance (VUS): Genetic changes with unclear clinical significance. Ongoing monitoring and family studies may be recommended.
- Carrier Status: Identification of individuals who carry one copy of a mutated gene but typically don’t show symptoms.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | ASAH1 Gene Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 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 |
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, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients nationwide.
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of neurological symptoms and progression
- Previous medical records and test results
Take Control of Your Neurological Health Today
Early genetic diagnosis can significantly impact disease management and quality of life. Our expert team of neurologists and genetic specialists are ready to guide you through the testing process and provide comprehensive result interpretation. Don’t wait to get the answers you need for better health outcomes.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward precise diagnosis and personalized care.
