MYO5A Gene Griscelli Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorders
The MYO5A Gene Griscelli Syndrome Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the MYO5A gene, which are responsible for Griscelli syndrome type 1. This rare autosomal recessive disorder affects multiple body systems, primarily impacting melanosome transport and leading to distinctive clinical features. Our advanced genetic testing provides definitive diagnosis, enabling targeted treatment strategies and informed family planning decisions.
What Does This Test Measure and Detect?
This comprehensive genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the entire coding region of the MYO5A gene, detecting:
- Pathogenic mutations and variants in the MYO5A gene
- Single nucleotide polymorphisms (SNPs) associated with Griscelli syndrome type 1
- Insertions, deletions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel variants with potential clinical significance
The MYO5A gene encodes myosin VA, a motor protein essential for intracellular transport of melanosomes and other organelles. Mutations disrupt this transport mechanism, leading to the characteristic symptoms of Griscelli syndrome type 1.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with the following symptoms or clinical indications:
- Infants or children with silver-gray hair and light skin pigmentation
- Patients exhibiting neurological symptoms including developmental delay
- Individuals with family history of Griscelli syndrome or consanguineous parents
- Patients with unexplained immune system abnormalities
- Those with characteristic hypopigmentation and neurological impairment
- Individuals requiring differential diagnosis from other pigmentary disorders
- Couples planning pregnancy with family history of the condition
Clinical Benefits of Genetic Testing
Undergoing the MYO5A Gene Griscelli Syndrome Type 1 NGS Genetic DNA Test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Griscelli syndrome type 1 with high accuracy
- Treatment Guidance: Informs appropriate medical management and intervention strategies
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Genetic Counseling: Enables targeted counseling for affected families
- Early Intervention: Facilitates timely management of neurological and immunological manifestations
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates pathogenic mutations in the MYO5A gene, confirming Griscelli syndrome type 1 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance (VUS): Identified genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Identification of individuals carrying one copy of mutated gene without disease symptoms
All results are accompanied by detailed explanations and recommendations for follow-up care. Our genetic counselors are available to help you understand your results and discuss next steps.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | MYO5A Gene Griscelli Syndrome Type 1 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 undergoing testing, patients should provide:
- Complete clinical history including symptoms and family medical background
- Participation in genetic counseling session to create detailed pedigree chart
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing and result interpretation
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art laboratories ensure consistent, high-quality testing regardless of your location.
Take the Next Step Toward Genetic Clarity
If you or your loved ones are experiencing symptoms suggestive of Griscelli syndrome type 1 or have a family history of this rare disorder, don’t wait to get answers. Our advanced NGS genetic testing provides the definitive diagnosis you need for proper medical management and informed family planning decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your MYO5A Gene Griscelli Syndrome Type 1 NGS Genetic DNA Test. Our experienced genetic specialists are ready to guide you through the testing process and help you understand your results.
Early diagnosis through comprehensive genetic testing can make a significant difference in managing this rare condition and improving quality of life for affected individuals and their families.
