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TMEM67 Gene Joubert Syndrome Type 6 Genetic Test

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

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The TMEM67 Gene Joubert Syndrome Type 6 NGS Genetic DNA Test is a comprehensive genetic analysis that detects mutations in the TMEM67 gene associated with Joubert syndrome type 6. This neurological disorder affects brain development, causing characteristic “molar tooth sign” on brain imaging, breathing abnormalities, eye movement issues, and developmental delays. Using advanced next-generation sequencing technology, this test provides precise identification of genetic variants that contribute to this rare autosomal recessive condition. Early diagnosis through this $500 USD test enables proactive management, appropriate medical interventions, and informed family planning decisions. Our genetic testing services are available across major US cities with expert genetic counseling support.

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TMEM67 Gene Joubert Syndrome Type 6 NGS Genetic DNA Test

Comprehensive Genetic Testing for Joubert Syndrome Type 6

The TMEM67 Gene Joubert Syndrome Type 6 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the TMEM67 gene, which are responsible for Joubert syndrome type 6. This rare neurological disorder affects approximately 1 in 80,000 to 100,000 newborns and is characterized by abnormal brain development, particularly in the cerebellar vermis and brainstem. Early and accurate genetic diagnosis is crucial for proper medical management, prognosis assessment, and family planning decisions.

What Does This Test Measure and Detect?

This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the TMEM67 gene for pathogenic variants. The test specifically detects:

  • Point mutations, insertions, and deletions in the TMEM67 gene
  • Autosomal recessive inheritance patterns
  • Variants associated with Joubert syndrome type 6 phenotype
  • Genetic markers for Meckel syndrome and COACH syndrome spectrum
  • Mutations affecting ciliary function and brain development

Who Should Consider This Genetic Test?

Clinical Indications and Symptoms

This test is recommended for individuals presenting with symptoms suggestive of Joubert syndrome or related ciliopathies:

  • Infants with abnormal breathing patterns (episodic tachypnea/apnea)
  • Children exhibiting developmental delays and hypotonia
  • Individuals with abnormal eye movements (nystagmus, oculomotor apraxia)
  • Patients with “molar tooth sign” on brain MRI imaging
  • Those with retinal dystrophy or kidney abnormalities
  • Family history of Joubert syndrome or consanguineous parents
  • Unexplained neurological symptoms in childhood

Key Benefits of TMEM67 Genetic Testing

Undergoing this comprehensive genetic analysis provides numerous advantages for patients and families:

  • Accurate Diagnosis: Confirms or rules out Joubert syndrome type 6 with high precision
  • Prognostic Information: Helps predict disease progression and potential complications
  • Family Planning: Enables informed reproductive decisions and prenatal testing options
  • Personalized Management: Guides appropriate medical interventions and surveillance
  • Genetic Counseling: Provides basis for comprehensive family genetic counseling
  • Research Contribution: Contributes to understanding of rare neurological disorders

Understanding Your Test Results

Interpretation Guidelines

Your genetic test results will be carefully interpreted by our board-certified genetic specialists:

  • Positive Result: Identification of pathogenic variants confirms Joubert syndrome type 6 diagnosis
  • Negative Result: No detected mutations significantly reduces likelihood of TMEM67-related disorder
  • Variant of Uncertain Significance: Requires additional family studies and clinical correlation
  • Carrier Status: Identifies individuals with single copy of mutation who are typically asymptomatic

All results include detailed explanations and recommendations for next steps, including referral to appropriate specialists and ongoing management strategies.

Test Pricing and Details

Test Component Price (USD)
Discount Price $500
Regular Price $700
Turnaround Time 3 to 4 Weeks
Sample Type Blood, Extracted DNA, or One Drop Blood on FTA Card

Nationwide Testing Availability

We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic counselors and neurological specialists ensures comprehensive care and support throughout your testing journey.

Take the Next Step Toward Genetic Clarity

Don’t let uncertainty about neurological symptoms affect your quality of life. Our TMEM67 Gene Joubert Syndrome Type 6 NGS Genetic DNA Test provides the answers you need for informed medical decisions. Contact our genetic specialists today to schedule your test and begin your journey toward accurate diagnosis and personalized care.

Call or WhatsApp us now at +1(267) 388-9828 to book your appointment or discuss your testing options with our genetic counseling team.

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