MKKS Gene McKusick-Kaufman Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Genetic Disorders
The MKKS Gene McKusick-Kaufman Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the MKKS gene, which is crucial for understanding and managing McKusick-Kaufman syndrome. This rare autosomal recessive disorder presents significant clinical challenges, and early genetic identification can dramatically improve patient outcomes through targeted management strategies.
What Does This Test Measure?
Our advanced next-generation sequencing technology comprehensively analyzes the MKKS gene to detect:
- Pathogenic variants and mutations in the MKKS gene
- Single nucleotide polymorphisms (SNPs) associated with disease manifestation
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations that may cause the syndrome
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with:
- Postaxial polydactyly (extra fingers or toes)
- Congenital heart defects, particularly ventricular septal defects
- Genital abnormalities including hydrometrocolpos in females
- Family history of McKusick-Kaufman syndrome or Bardet-Biedl syndrome
- Unexplained developmental delays with physical abnormalities
- Couples with family history planning pregnancy
- Individuals from populations with higher carrier frequencies
Clinical Benefits of Genetic Testing
Undergoing the MKKS gene test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out McKusick-Kaufman syndrome with high precision
- Family Planning Guidance: Identifies carrier status for informed reproductive decisions
- Early Intervention: Enables proactive management of associated health complications
- Genetic Counseling: Provides comprehensive understanding of inheritance patterns
- Differential Diagnosis: Helps distinguish from similar conditions like Bardet-Biedl syndrome
- Research Contribution: Advances scientific understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully understand your results:
- Positive Result: Indicates presence of pathogenic mutations; confirms diagnosis and guides management
- Negative Result: Suggests absence of known MKKS mutations but doesn’t completely rule out the condition
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who are typically asymptomatic
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | MKKS Gene McKusick-Kaufman Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
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, and many more. Our network of certified genetic counselors and healthcare professionals ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions impact your health decisions. Our MKKS Gene McKusick-Kaufman Syndrome NGS Genetic DNA Test provides the answers you need for informed healthcare planning. With our discounted price of $500 USD and comprehensive genetic counseling included, you’ll receive expert guidance every step of the way.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
