SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test
Comprehensive Introduction to Glycosylation Disorder Testing
The SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, specifically targeting congenital disorders of glycosylation (CDG). These rare genetic conditions affect the complex process of adding sugar molecules to proteins, a crucial biological function that impacts numerous cellular processes throughout the body. When glycosylation pathways are disrupted due to SLC35A1 gene mutations, patients can experience multisystem complications affecting neurological development, metabolic function, and overall health.
This advanced genetic test holds significant importance in modern medical practice because it enables precise identification of the underlying genetic cause of glycosylation disorders. Early and accurate diagnosis through this testing can dramatically improve patient outcomes by facilitating targeted interventions, personalized treatment plans, and informed family counseling. The test’s ability to detect specific mutations in the SLC35A1 gene provides clinicians with definitive diagnostic information that guides comprehensive care management.
What This Advanced Genetic Test Detects
The SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test specifically identifies mutations and variations in the SLC35A1 gene, which encodes for the CMP-sialic acid transporter protein. This protein plays a critical role in transporting activated sialic acid from the cytoplasm into the Golgi apparatus, where it becomes incorporated into glycoproteins and glycolipids. The test measures:
- Point mutations, deletions, and insertions in the SLC35A1 gene coding regions
- Single nucleotide variants (SNVs) affecting protein function
- Copy number variations that may impact gene dosage
- Splice site mutations that alter mRNA processing
- Regulatory region variants affecting gene expression
Using next-generation sequencing technology, this test provides comprehensive coverage of the entire SLC35A1 gene with exceptional accuracy and sensitivity, detecting even rare variants that might be missed by conventional genetic testing methods.
Who Should Consider SLC35A1 Genetic Testing
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of congenital disorders of glycosylation, particularly when standard metabolic screening reveals abnormal patterns. Key indications include:
Clinical Symptoms and Presentations
- Infants and children with unexplained developmental delays
- Patients with neurological abnormalities including seizures, hypotonia, or ataxia
- Individuals with abnormal liver function tests or coagulopathy
- Patients with distinctive facial features associated with CDG syndromes
- Children with failure to thrive despite adequate nutritional intake
- Individuals with inverted nipples or abnormal fat distribution patterns
- Patients with recurrent infections or immune system dysfunction
- Those with abnormal transferrin glycosylation patterns on laboratory testing
Family History Considerations
- Individuals with family members diagnosed with glycosylation disorders
- Siblings of affected patients for carrier screening
- Couples planning pregnancy with known family history of metabolic disorders
- Patients with unexplained stillbirths or neonatal deaths in family history
Significant Benefits of Genetic Testing
Undergoing the SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test provides numerous advantages for patients, families, and healthcare providers:
Diagnostic Clarity and Precision
- Provides definitive molecular diagnosis, eliminating diagnostic uncertainty
- Enables differentiation between various types of congenital glycosylation disorders
- Facilitates accurate prognosis and disease progression expectations
- Supports appropriate medical management and intervention strategies
Family Planning and Genetic Counseling
- Allows for informed reproductive decision-making
- Enables prenatal diagnosis in subsequent pregnancies
- Provides risk assessment for extended family members
- Supports comprehensive genetic counseling services
Personalized Treatment Approaches
- Guides targeted therapeutic interventions based on specific genetic findings
- Helps anticipate and manage potential complications
- Supports enrollment in clinical trials and research studies
- Facilitates multidisciplinary care coordination
Understanding Your Genetic Test Results
Interpreting SLC35A1 genetic test results requires specialized expertise in metabolic genetics. Our comprehensive reporting includes:
Result Categories and Interpretation
- Pathogenic Variants: These mutations are known to cause disease and confirm the diagnosis of glycosylation disorder type 2F
- Likely Pathogenic Variants: Strongly suspected disease-causing mutations requiring clinical correlation
- Variants of Uncertain Significance (VUS): Genetic changes with unclear clinical impact that may require additional family studies
- Likely Benign Variants: Genetic changes not expected to cause disease
- Benign Variants: Common polymorphisms with no clinical significance
Post-Test Guidance and Next Steps
- Detailed genetic counseling session to explain results and implications
- Personalized management recommendations based on specific findings
- Referral to appropriate specialists for comprehensive care
- Family testing recommendations when indicated
- Long-term follow-up planning and surveillance protocols
Test Information and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis period | 3-4 Weeks |
| Sample Type | Multiple collection options available | Blood, Extracted DNA, or FTA Card |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas. Our comprehensive network includes specialized collection centers in:
- New York City: Manhattan, Brooklyn, Queens, Bronx, Staten Island
- Los Angeles: Downtown LA, Beverly Hills, Santa Monica, Pasadena
- Chicago: Downtown Chicago, North Shore, Western Suburbs
- Houston: Medical Center, Downtown, The Woodlands, Sugar Land
- Phoenix: Central Phoenix, Scottsdale, Mesa, Glendale
- Plus additional locations in Philadelphia, San Antonio, San Diego, Dallas, San Jose, and throughout the USA
Our experienced genetic counselors and phlebotomy teams ensure comfortable sample collection and comprehensive pre-test counseling sessions to discuss clinical history and create detailed pedigree charts of family members affected with glycosylation disorders.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic symptoms delay proper diagnosis and treatment. The SLC35A1 Gene Glycosylation Disorder Type 2F NGS Genetic DNA Test provides the definitive answers you need for informed healthcare decisions. Our team of genetic specialists is ready to guide you through the testing process with compassion and expertise.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take advantage of our limited-time discount pricing at only $500 USD and begin your journey toward accurate diagnosis and personalized care management.
Early genetic testing can make a significant difference in managing glycosylation disorders and improving quality of life. Contact us now to learn more about this advanced diagnostic option and how it can benefit you or your family member.
