TGM1 Gene Ichthyosis Congenital Autosomal Recessive Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Severe Inherited Skin Disorders
The TGM1 Gene Ichthyosis Congenital Autosomal Recessive Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for severe inherited skin conditions. This advanced genetic test specifically targets mutations in the transglutaminase 1 (TGM1) gene, which plays a critical role in maintaining the structural integrity of the skin’s outermost layer. When this gene malfunctions, it leads to life-threatening congenital ichthyosis conditions that require immediate medical intervention and specialized care.
What This Test Measures and Detects
Our comprehensive NGS-based genetic analysis examines the complete coding region of the TGM1 gene to identify:
- Point mutations, insertions, and deletions in the TGM1 gene
- Autosomal recessive inheritance patterns
- Pathogenic variants associated with lamellar ichthyosis
- Genetic markers for congenital ichthyosiform erythroderma
- Mutations affecting keratinocyte differentiation and cornified envelope formation
The test utilizes state-of-the-art Next Generation Sequencing technology, providing unparalleled accuracy in detecting even the most subtle genetic variations that conventional methods might miss.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals and families experiencing:
- Newborns presenting with collodion membrane at birth
- Infants with severe, generalized scaling of the skin
- Family history of congenital ichthyosis or unexplained neonatal skin disorders
- Parents planning pregnancy with known family history of skin barrier diseases
- Unexplained cases of erythroderma in infancy
- Suspected autosomal recessive inheritance patterns of skin conditions
Clinical Symptoms and Indications
Patients who may benefit from TGM1 genetic testing often present with:
- Severe skin scaling covering large body surface areas
- Collodion baby presentation at birth
- Persistent erythroderma (redness) of the skin
- Impaired skin barrier function leading to dehydration risk
- Temperature regulation difficulties
- Increased susceptibility to skin infections
- Ectropion (eyelid turning outward) and eclabium (lip eversion)
Benefits of TGM1 Genetic Testing
Accurate Diagnosis and Treatment Guidance
Receiving a definitive genetic diagnosis through TGM1 testing provides numerous clinical advantages:
- Precise Diagnosis: Confirms or rules out TGM1-related congenital ichthyosis
- Treatment Optimization: Guides appropriate therapeutic interventions
- Prognostic Information: Helps predict disease course and potential complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables prompt management to prevent complications
- Research Contribution: Advances understanding of rare genetic skin disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Identifies pathogenic mutations in TGM1 gene, confirming diagnosis of autosomal recessive congenital ichthyosis
- Negative Result: No disease-causing variants detected in TGM1 gene, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms
All results include detailed interpretation by our board-certified genetic specialists and recommendations for next steps in clinical management.
Test Information and Pricing
| Test Component | Details | Price (USD) |
|---|---|---|
| Test Name | TGM1 Gene Ichthyosis Congenital Autosomal Recessive Type 1 NGS Genetic DNA Test | – |
| Discount Price | Limited time special offer | $500 |
| Regular Price | Standard pricing | $700 |
| Turnaround Time | Comprehensive analysis and reporting | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One drop Blood on FTA Card | – |
| Technology | Next Generation Sequencing (NGS) | – |
Pre-Test Requirements
To ensure optimal testing conditions and accurate results, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to document family pedigree
- Informed consent for genetic testing
- Appropriate sample collection following our guidelines
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about inherited skin conditions affect your family’s health and future. Our TGM1 genetic test provides the answers you need for informed medical decisions and peace of mind. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your TGM1 Gene Ichthyosis Congenital Autosomal Recessive Type 1 NGS Genetic DNA Test. Take control of your genetic health with confidence and clarity.
