DiGeorge Syndrome Karyotyping FISH Test
Comprehensive Genetic Testing for 22q11.2 Deletion Syndrome
The DiGeorge Syndrome Karyotyping FISH test represents a cutting-edge approach to genetic diagnosis, combining traditional chromosomal analysis with advanced molecular techniques to detect 22q11.2 deletion syndrome. This comprehensive testing methodology provides healthcare providers with detailed insights into chromosomal abnormalities that can affect multiple body systems and developmental pathways.
What is DiGeorge Syndrome?
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a small missing piece of chromosome 22. This deletion affects the development of several body systems, including the heart, immune system, and facial features. The condition can vary significantly in severity and presentation, making accurate diagnosis essential for proper management and treatment.
What the Test Measures and Detects
The DiGeorge Syndrome Karyotyping FISH test utilizes two complementary technologies to provide comprehensive genetic analysis:
- Karyotyping Analysis: Examines the complete set of chromosomes for structural abnormalities, including large deletions, duplications, and translocations
- Fluorescence In Situ Hybridization (FISH): Uses fluorescent probes specifically designed to detect the 22q11.2 microdeletion that characterizes DiGeorge syndrome
- Chromosome 22 Analysis: Focuses specifically on the critical region of chromosome 22 where the deletion occurs
- Microdeletion Detection: Identifies small chromosomal deletions that may not be visible through standard karyotyping alone
Who Should Consider This Test
This genetic test is recommended for individuals displaying symptoms or characteristics associated with DiGeorge syndrome, including:
Clinical Indications and Symptoms
- Congenital heart defects, particularly conotruncal abnormalities
- Immune system deficiencies and recurrent infections
- Cleft palate or other facial abnormalities
- Developmental delays and learning disabilities
- Hypocalcemia (low calcium levels) due to parathyroid issues
- Characteristic facial features including hooded eyelids, flat nasal bridge, and small ears
- Feeding difficulties in infancy
- Speech and language delays
- Behavioral and psychiatric conditions
- Family history of 22q11.2 deletion syndrome
Benefits of Taking the DiGeorge Syndrome Test
Early and accurate diagnosis through the DiGeorge Syndrome Karyotyping FISH test provides numerous advantages for patients and families:
- Accurate Diagnosis: Provides definitive confirmation of 22q11.2 deletion syndrome
- Comprehensive Assessment: Combines two testing methodologies for enhanced accuracy
- Early Intervention: Enables timely medical management and treatment planning
- Family Planning: Provides genetic counseling information for future pregnancies
- Personalized Care: Guides development of targeted treatment strategies
- Peace of Mind: Reduces uncertainty and provides clear diagnostic information
- Medical Management: Helps coordinate care across multiple specialties including cardiology, immunology, and endocrinology
Understanding Your Test Results
Normal Results
A normal result indicates that no 22q11.2 deletion was detected, and chromosome 22 appears structurally normal. This result typically rules out DiGeorge syndrome as the cause of the patient’s symptoms, though additional testing may be recommended depending on clinical presentation.
Abnormal Results
An abnormal result confirms the presence of a 22q11.2 deletion, diagnosing DiGeorge syndrome. The specific size and location of the deletion may vary, which can influence the severity and specific features of the condition. Your healthcare provider will discuss the implications of the results and develop a comprehensive management plan.
Inconclusive Results
In rare cases, results may be inconclusive due to technical factors or sample quality. If this occurs, repeat testing may be recommended to obtain definitive results.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | DiGeorge Syndrome Karyotyping FISH |
| Regular Price | $276 USD |
| Discount Price | $206 USD |
| Turnaround Time | 10-12 days |
| Sample Type | Peripheral blood |
| Test Components | Sodium heparin Vacutainer (2ml) |
| Testing Method | Cell Culture + FISH |
| Specialty | Gynecologist, Genetics |
Pre-Test Instructions and Requirements
The DiGeorge Syndrome Karyotyping FISH test requires a doctor’s prescription for most cases. However, prescription requirements do not apply for:
- Surgery preparation cases
- Pregnancy-related testing
- Individuals planning international travel requiring genetic testing documentation
Nationwide Testing Availability
We have testing facilities 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 more. Our network of certified laboratories ensures consistent, high-quality testing standards nationwide.
Take the Next Step Toward Genetic Clarity
If you or your loved one are experiencing symptoms that may indicate DiGeorge syndrome, don’t wait to get the answers you need. Our comprehensive genetic testing provides the clarity required for proper diagnosis and treatment planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your DiGeorge Syndrome Karyotyping FISH test. Our genetic counseling team is available to answer your questions and help you understand the testing process.
Early diagnosis through advanced genetic testing can make a significant difference in managing DiGeorge syndrome effectively. Contact us now to book your appointment and take the first step toward comprehensive genetic understanding and personalized medical care.
