SLC25A19 Gene Microcephaly Amish Type NGS Genetic DNA Test

Comprehensive Genetic Testing for Amish-Type Microcephaly

The SLC25A19 Gene Microcephaly Amish Type NGS Genetic DNA Test represents a breakthrough in pediatric genetic diagnostics, specifically designed to identify mutations in the SLC25A19 gene that cause Amish-type microcephaly. This autosomal recessive condition primarily affects individuals of Amish descent and leads to severe neurological complications from birth. Our advanced Next-Generation Sequencing technology provides unparalleled accuracy in detecting these rare genetic variations, enabling early intervention and comprehensive family planning guidance.

What Does This Test Measure and Detect?

This specialized genetic test focuses exclusively on the SLC25A19 gene, which encodes the mitochondrial thiamine pyrophosphate carrier protein. The test detects:

• Pathogenic mutations in the SLC25A19 gene associated with Amish-type microcephaly
• Single nucleotide variants (SNVs) and small insertions/deletions (indels)
• Autosomal recessive inheritance patterns
• Carrier status for family members
• Specific genetic markers linked to severe neurological manifestations

Using state-of-the-art NGS technology, the test provides comprehensive coverage of the entire SLC25A19 gene, ensuring no mutation goes undetected. The analysis includes both coding and non-coding regions that may impact gene function and protein expression.

Who Should Consider This Genetic Test?

This test is particularly recommended for individuals and families experiencing:

• Newborns or infants with congenital microcephaly (head circumference below the 3rd percentile)
• Families of Amish or Old Order Mennonite descent
• Children showing developmental delays and neurological abnormalities
• Individuals with family history of microcephaly or unexplained infant mortality
• Couples planning pregnancy with known family history of neurological disorders
• Patients presenting with lactic acidosis and other metabolic abnormalities
• Infants with feeding difficulties, seizures, or abnormal muscle tone

Clinical Benefits of SLC25A19 Genetic Testing

Undergoing this comprehensive genetic analysis provides numerous clinical advantages:

• Accurate Diagnosis: Confirms or rules out Amish-type microcephaly with high precision
• Family Planning Guidance: Enables informed reproductive decisions for carrier couples
• Early Intervention: Facilitates timely medical management and supportive care
• Genetic Counseling: Provides basis for comprehensive family risk assessment
• Differential Diagnosis: Helps distinguish from other forms of microcephaly
• Research Contribution: Advances understanding of rare genetic disorders

Understanding Your Test Results

Our genetic specialists provide comprehensive interpretation of your results:

• Positive Result: Indicates presence of pathogenic mutations in both copies of the SLC25A19 gene, confirming diagnosis of Amish-type microcephaly
• Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic but can pass the condition to offspring
• Negative Result: Suggests absence of known pathogenic mutations in the SLC25A19 gene
• Variant of Uncertain Significance: May identify genetic changes with unknown clinical impact requiring further evaluation

All results include detailed clinical correlation and recommendations for follow-up care. Our genetic counselors are available to discuss results and provide personalized guidance.

Test Pricing and Sample Requirements

Pre-Test Requirements and Genetic Counseling

Before testing, we recommend:

• Comprehensive clinical history documentation
• Genetic counseling session to create detailed family pedigree
• Discussion of test implications and potential outcomes
• Informed consent process
• Assessment of family members who may benefit from testing

Nationwide Testing Availability

We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible testing for families nationwide.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about genetic conditions affect your family’s future. Our specialized SLC25A19 genetic testing provides the answers you need for informed medical decisions and family planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic diagnostics with confidence.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.