MLPH Gene Griscelli Syndrome Type 3 NGS Genetic DNA Test

Understanding Griscelli Syndrome Type 3

Griscelli syndrome type 3 is a rare autosomal recessive genetic disorder characterized by partial albinism and silvery-gray hair. This condition results from mutations in the MLPH (melanophilin) gene, which plays a crucial role in melanosome transport within melanocytes. The MLPH Gene Griscelli Syndrome Type 3 NGS Genetic DNA Test provides comprehensive genetic analysis to identify mutations responsible for this distinctive pigmentary disorder.

What Does This Test Measure?

Our advanced NGS (Next-Generation Sequencing) technology examines the complete coding region of the MLPH gene to detect:

• Point mutations and single nucleotide variants
• Small insertions and deletions
• Copy number variations
• Pathogenic variants affecting melanosome transport
• Genetic markers associated with pigment dilution

Clinical Significance of MLPH Gene Mutations

The MLPH gene encodes melanophilin, a protein essential for melanosome transport from melanocytes to keratinocytes. Mutations in this gene disrupt normal pigment transfer, leading to the characteristic hypopigmentation seen in Griscelli syndrome type 3. Unlike other forms of Griscelli syndrome, type 3 typically presents without neurological or immunological complications.

Who Should Consider This Test?

This genetic test is recommended for individuals presenting with:

• Silvery-gray hair from birth or early childhood
• Hypopigmented skin patches
• Family history of pigmentary disorders
• Diagnostic uncertainty regarding albinism types
• Consanguineous parentage with pigment abnormalities
• Characteristic “silver” hair shaft appearance under microscopy

Clinical Indications and Symptoms

Patients typically exhibit pigment dilution affecting hair, skin, and sometimes eyebrows and eyelashes. The hair color often appears metallic or silvery, particularly in natural light. Unlike Griscelli syndrome types 1 and 2, type 3 patients generally maintain normal neurological function and immune system competence.

Benefits of Genetic Testing

• Accurate Diagnosis: Provides definitive molecular confirmation of Griscelli syndrome type 3
• Genetic Counseling: Enables informed family planning decisions
• Differential Diagnosis: Distinguishes from other forms of albinism and pigment disorders
• Prognostic Information: Confirms absence of neurological and immunological risks
• Personalized Management: Guides appropriate dermatological care and sun protection strategies

Understanding Your Test Results

Our comprehensive genetic report provides detailed interpretation of your MLPH gene analysis:

Positive Result

Identification of pathogenic MLPH mutations confirms Griscelli syndrome type 3 diagnosis. This result provides clarity for clinical management and genetic counseling.

Negative Result

Absence of MLPH mutations suggests alternative diagnoses should be considered, including other forms of oculocutaneous albinism or pigment dilution syndromes.

Variant of Uncertain Significance

Some genetic changes may require additional family studies or functional analysis to determine clinical significance.

Test Details and Pricing

Pre-Test Requirements

Before testing, we recommend:

• Complete clinical history documentation
• Genetic counseling session to create family pedigree chart
• Discussion of testing implications and potential outcomes
• Informed consent process

Nationwide Testing Availability

We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for patients nationwide.

Take the Next Step Toward Genetic Clarity

If you or your patient are experiencing symptoms suggestive of Griscelli syndrome type 3 or have concerns about pigmentary disorders, our MLPH genetic test provides the definitive answers you need. Early and accurate diagnosis enables appropriate management and informed decision-making.

Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic counseling team. Our specialists are available to answer your questions and guide you through the testing process.

Don’t let diagnostic uncertainty delay appropriate care. Book your MLPH Gene Griscelli Syndrome Type 3 NGS Genetic DNA Test today and take the first step toward genetic clarity and personalized medical management.