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ALDH18A1 Gene Cutis Laxa Type 3A Autosomal Recessive Genetic Test

Original price was: $700.Current price is: $500.

-29%

The ALDH18A1 Gene Cutis Laxa Type 3A Autosomal Recessive NGS Genetic DNA Test is a specialized diagnostic tool that identifies mutations in the ALDH18A1 gene responsible for Cutis Laxa Type 3A, a rare connective tissue disorder. This comprehensive next-generation sequencing test analyzes the entire ALDH18A1 gene to detect pathogenic variants that cause autosomal recessive inheritance patterns. The test provides crucial information for individuals with symptoms of loose, sagging skin, joint hypermobility, developmental delays, and neurological complications. At only $500 USD, this advanced genetic testing offers definitive diagnosis, enables personalized treatment strategies, and provides valuable information for family planning decisions. Our state-of-the-art NGS technology ensures high accuracy and reliability in detecting even complex genetic variations.

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ALDH18A1 Gene Cutis Laxa Type 3A Autosomal Recessive NGS Genetic DNA Test

Understanding ALDH18A1 Gene Cutis Laxa Type 3A

The ALDH18A1 Gene Cutis Laxa Type 3A Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare connective tissue disorders. Cutis Laxa Type 3A is a complex condition characterized by abnormal skin elasticity, neurological complications, and developmental challenges. This comprehensive genetic analysis provides definitive answers for patients and families affected by this rare genetic condition.

What Does This Test Measure?

Our advanced Next-Generation Sequencing (NGS) technology thoroughly examines the ALDH18A1 gene to identify pathogenic mutations responsible for Cutis Laxa Type 3A. The test specifically targets:

  • Complete sequencing of the ALDH18A1 gene coding regions
  • Detection of point mutations, insertions, and deletions
  • Identification of autosomal recessive inheritance patterns
  • Analysis of variants affecting proline biosynthesis
  • Comprehensive coverage of all known pathogenic variants

Who Should Consider This Genetic Test?

This specialized genetic test is recommended for individuals presenting with:

  • Loose, sagging, or inelastic skin from birth or early childhood
  • Joint hypermobility and connective tissue abnormalities
  • Developmental delays or intellectual disability
  • Neurological symptoms including seizures or movement disorders
  • Family history of Cutis Laxa or similar connective tissue conditions
  • Unexplained skeletal abnormalities or growth delays
  • Suspected autosomal recessive inheritance patterns in the family

Clinical Benefits of Genetic Testing

Undergoing the ALDH18A1 genetic test provides numerous clinical advantages:

  • Definitive Diagnosis: Confirms or rules out Cutis Laxa Type 3A with high accuracy
  • Personalized Treatment: Enables targeted management strategies for skin, neurological, and developmental issues
  • Family Planning: Provides crucial information for genetic counseling and reproductive decisions
  • Early Intervention: Facilitates timely management of associated complications
  • Prognostic Information: Helps predict disease progression and potential complications
  • Research Contribution: Contributes to ongoing medical research about rare genetic disorders

Understanding Your Test Results

Our comprehensive genetic counseling support helps you interpret your results:

  • Positive Result: Indicates the presence of pathogenic ALDH18A1 mutations confirming Cutis Laxa Type 3A diagnosis
  • Negative Result: Suggests ALDH18A1 mutations are not detected, though other genetic causes may need investigation
  • Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
  • Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms

Test Pricing and Details

Test Component Details
Test Name ALDH18A1 Gene Cutis Laxa Type 3A Autosomal Recessive NGS Genetic DNA Test
Discount Price $500 USD
Regular Price $700 USD
Turnaround Time 3 to 4 Weeks
Sample Type Blood
Testing Method Next-Generation Sequencing (NGS)

Pre-Test Requirements

Before scheduling your test, please ensure:

  • Complete clinical history documentation of the patient
  • Genetic counseling session to create a detailed family pedigree chart
  • Discussion of testing implications with a genetic counselor
  • Understanding of potential outcomes and their significance

Nationwide Testing Availability

GGC DNA provides comprehensive genetic testing services across the United States with convenient locations in:

  • New York City and surrounding areas
  • Los Angeles and Southern California
  • Chicago and Midwest regions
  • Houston and Texas metropolitan areas
  • Phoenix and Southwest territories
  • All major metropolitan centers nationwide

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about genetic conditions affect your quality of life. Our specialized ALDH18A1 genetic testing provides the answers you need for informed healthcare decisions. With our discounted price of only $500 USD, advanced NGS technology, and comprehensive genetic counseling support, you can gain valuable insights into your genetic health.

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

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