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POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome NGS Genetic DNA Test

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

-29%

The POLD1 Gene NGS Genetic DNA Test is a comprehensive diagnostic tool designed to identify mutations in the POLD1 gene associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome. This specialized genetic test utilizes Next Generation Sequencing technology to provide accurate detection of pathogenic variants that cause this rare autosomal dominant disorder. The test is particularly valuable for individuals presenting with characteristic facial features, premature aging symptoms, hearing loss, and abnormal fat distribution patterns. By identifying the specific genetic mutation, healthcare providers can establish a definitive diagnosis, guide appropriate management strategies, and provide accurate genetic counseling for family planning. The test is available for $500 USD and provides results within 3-4 weeks using blood, extracted DNA, or blood spot samples.

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  • ISO-Accredited Laboratory, Ensuring Highest Standards
  • Trusted by Hospitals & Patients —Accredited Testing with Results
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POLD1 Gene Mandibular Hypoplasia Deafness Progeroid Features and Lipodystrophy Syndrome NGS Genetic DNA Test

Comprehensive Genetic Testing for Rare Developmental Disorders

The POLD1 Gene NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations associated with a rare genetic condition characterized by mandibular hypoplasia, sensorineural deafness, progeroid features, and lipodystrophy syndrome. This comprehensive genetic analysis provides crucial insights for patients and families affected by this complex disorder, enabling accurate diagnosis and informed medical management decisions.

What Does the POLD1 Gene Test Detect?

This advanced genetic test specifically targets the POLD1 gene, which encodes the catalytic subunit of DNA polymerase delta. Through Next Generation Sequencing technology, the test identifies pathogenic variants that disrupt normal DNA replication and repair mechanisms. The test detects:

  • Point mutations in the POLD1 gene coding regions
  • Small insertions and deletions affecting gene function
  • Pathogenic variants associated with autosomal dominant inheritance
  • Specific mutations linked to mandibular hypoplasia and lipodystrophy

Who Should Consider This Genetic Test?

Clinical Indications and Symptoms

This test is recommended for individuals presenting with characteristic features of POLD1-related disorders, including:

  • Facial Abnormalities: Underdeveloped jaw (mandibular hypoplasia), prominent eyes, thin lips
  • Hearing Impairment: Progressive sensorineural hearing loss typically beginning in childhood
  • Premature Aging Features: Progeroid characteristics including thin skin, hair loss, and aged appearance
  • Metabolic Disturbances: Lipodystrophy with abnormal fat distribution and insulin resistance
  • Growth Concerns: Short stature and delayed development in pediatric patients

Clinical Benefits of POLD1 Genetic Testing

Undergoing the POLD1 Gene NGS Test provides numerous advantages for patients and healthcare providers:

  • Definitive Diagnosis: Confirms or rules out POLD1-related syndrome with high accuracy
  • Family Planning Guidance: Enables informed reproductive decisions through genetic counseling
  • Personalized Management: Guides appropriate medical interventions and monitoring protocols
  • Early Intervention: Facilitates timely implementation of supportive therapies
  • Research Contribution: Advances understanding of rare genetic disorders

Understanding Your Test Results

Test results are carefully interpreted by our team of board-certified geneticists and molecular pathologists. The report includes:

  • Positive Result: Indicates the presence of a pathogenic POLD1 mutation, confirming diagnosis
  • Negative Result: Suggests absence of detectable mutations in the POLD1 gene
  • Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact
  • Clinical Correlation: Recommendations for additional testing or family studies when indicated

All positive results are accompanied by detailed genetic counseling to help patients and families understand the implications and next steps.

Test Pricing and Availability

Test Component Price (USD)
Discount Price $500
Regular Price $700

Test Specifications

  • Turnaround Time: 3 to 4 Weeks
  • Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
  • Methodology: Next Generation Sequencing (NGS) Technology
  • Specialty: Pediatrics and Genetics
  • Department: Genetics
  • Disease Classification: Dysmorphology

Pre-Test Requirements

Before scheduling your POLD1 Gene Test, please ensure:

  • Complete clinical history documentation of the patient
  • Genetic counseling session to create a detailed family pedigree
  • Discussion of test implications and potential outcomes
  • Informed consent process completion

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, and San Jose. Our network of certified genetic counselors and medical professionals ensures accessible, high-quality care regardless of your location.

Schedule Your Genetic Test Today

Take the first step toward accurate diagnosis and personalized care. Our dedicated team is ready to assist you with scheduling, insurance verification, and answering any questions about the POLD1 Gene NGS Genetic DNA Test.

Call or WhatsApp: +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. Early diagnosis can make a significant difference in management and quality of life for individuals with POLD1-related disorders.

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