WDR19 Gene Cranioectodermal Dysplasia Type 4 NGS Genetic DNA Test

Comprehensive Genetic Analysis for Rare Skeletal Disorders

The WDR19 Gene Cranioectodermal Dysplasia Type 4 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the WDR19 gene, which plays a crucial role in normal skeletal and ectodermal development. This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the WDR19 gene, enabling precise detection of pathogenic variants associated with Cranioectodermal Dysplasia Type 4 (CED4), a rare autosomal recessive disorder characterized by distinctive craniofacial features, skeletal abnormalities, and ectodermal defects.

What Does This Test Measure and Detect?

This advanced genetic test specifically targets the WDR19 gene located on chromosome 4q21.23, which encodes the WD repeat-containing protein 19. The test detects:

• Pathogenic mutations in the WDR19 gene including missense, nonsense, frameshift, and splice-site variants
• Single nucleotide polymorphisms (SNPs) and small insertions/deletions affecting protein function
• Compound heterozygous or homozygous mutations consistent with autosomal recessive inheritance
• Genetic variants that disrupt ciliary function and intraflagellar transport mechanisms

Clinical Significance of WDR19 Gene Mutations

Mutations in the WDR19 gene disrupt normal ciliary function, leading to impaired hedgehog signaling pathways that are essential for proper skeletal patterning and development. The protein encoded by WDR19 functions as a component of intraflagellar transport complex A (IFT-A), playing a critical role in maintaining primary cilia structure and function. When these cellular mechanisms are compromised, it results in the characteristic features of Cranioectodermal Dysplasia Type 4.

Who Should Consider This Genetic Test?

This test is recommended for individuals presenting with the following clinical features:

Primary Clinical Indications

• Infants and children with disproportionate short stature and skeletal dysplasia
• Individuals with narrow thorax and short ribs affecting respiratory function
• Patients exhibiting brachydactyly (short fingers and toes) and cone-shaped epiphyses
• Children with developmental delays and intellectual disability of unknown etiology

Associated Physical Features

• Distinctive craniofacial features including prominent forehead, telecanthus, and low-set ears
• Sparse, slow-growing scalp hair and eyebrow abnormalities
• Dental anomalies such as hypodontia (missing teeth) and enamel defects
• Nail dysplasia and skin abnormalities
• Ocular manifestations including retinal dystrophy and visual impairment

Family History Considerations

• Individuals with family history of skeletal dysplasias or ectodermal dysplasias
• Consanguineous parents or siblings with similar clinical presentations
• Couples planning pregnancy with known family history of WDR19-related disorders

Benefits of WDR19 Genetic Testing

Accurate Diagnosis and Prognostic Information

Receiving a definitive molecular diagnosis through WDR19 genetic testing provides crucial information about disease progression, potential complications, and long-term prognosis. This enables healthcare providers to implement appropriate surveillance protocols and anticipate medical needs before they become critical.

Personalized Treatment Planning

Genetic confirmation allows for tailored management strategies including:

• Multidisciplinary care coordination with orthopedics, pulmonology, and dentistry
• Early intervention for developmental delays and educational support
• Proactive management of respiratory complications
• Dental rehabilitation and nutritional optimization

Reproductive Counseling and Family Planning

Identification of WDR19 mutations provides essential information for genetic counseling, enabling families to understand inheritance patterns and make informed reproductive decisions. This includes discussing options such as prenatal diagnosis and preimplantation genetic testing.

Research and Clinical Trial Eligibility

A confirmed genetic diagnosis may qualify patients for specialized research studies and clinical trials focused on ciliopathies and skeletal dysplasias, potentially providing access to emerging therapies and expert care centers.

Understanding Your Test Results

Positive Result Interpretation

A positive result indicates the presence of pathogenic mutations in the WDR19 gene consistent with Cranioectodermal Dysplasia Type 4 diagnosis. Our genetic counselors will provide comprehensive explanation of:

• Specific mutation type and its functional consequences
• Expected clinical manifestations and disease severity
• Recommended surveillance and management protocols
• Family testing implications and recurrence risks

Negative Result Interpretation

A negative result suggests that no pathogenic WDR19 mutations were detected. However, this does not completely rule out Cranioectodermal Dysplasia, as there may be:

• Mutations in other genes causing similar phenotypes
• Technical limitations in detecting certain variant types
• Deep intronic or regulatory region mutations not covered by standard testing

Variant of Uncertain Significance (VUS)

If a VUS is identified, our team provides guidance on clinical correlation and may recommend additional family studies to help determine variant significance. Regular follow-up is advised as classification may change with emerging research evidence.

Test Pricing and Availability

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 Category: Dysmorphology

Pre-Test Requirements and Genetic Counseling

Before undergoing WDR19 genetic testing, we require:

• Complete clinical history of the patient including developmental milestones and physical examination findings
• A comprehensive genetic counseling session to discuss test implications, limitations, and potential outcomes
• Construction of a detailed pedigree chart documenting family members affected with similar conditions
• Informed consent process explaining the benefits, risks, and alternatives to genetic testing

Nationwide Testing Availability

General Genetics Corporation provides comprehensive WDR19 genetic testing services across the United States. We have established branches in all major metropolitan areas including:

• New York City and surrounding tri-state area
• Los Angeles and Southern California region
• Chicago and Midwest locations
• Houston, Dallas, and Texas facilities
• Phoenix, Arizona diagnostic centers
• Philadelphia and East Coast testing sites
• Multiple additional locations nationwide

Take the Next Step Toward Genetic Clarity

If you or your child are experiencing symptoms suggestive of Cranioectodermal Dysplasia Type 4 or have a family history of skeletal abnormalities, our WDR19 genetic test can provide the answers you need. Early diagnosis enables proactive management and improves long-term outcomes.

Call our genetic specialists today at +1(267) 388-9828 to schedule your genetic counseling session and learn more about this comprehensive testing option. Our team is available to answer your questions, discuss insurance coverage, and guide you through the testing process with compassion and expertise.

Don’t wait to get the genetic clarity your family deserves. Contact us now to book your WDR19 Gene Cranioectodermal Dysplasia Type 4 NGS Genetic DNA Test and take control of your genetic health journey.