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22q deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH Test: Booking, Price, and Results

About 22q deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH Test: Booking, Price, and Results

Field	Value
Also Known As	22q11.2 deletion FISH, DiGeorge syndrome FISH, VCFS FISH, 22q deletion test, Shprintzen syndrome FISH, CATCH-22 FISH
Sample Type	Peripheral blood (sodium heparin tube), bone marrow, chorionic villus sampling (CVS), amniotic fluid, cord blood
Fasting Required	No fasting required
Report Time	9 Days
Recommended For	All ages; infants and children with suspected congenital heart defects, distinctive facial features, developmental delay, or immune deficiency; prenatal cases with foetal cardiac anomalies
Price	Starting at ₹7,200

What is a 22q Deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH Test?

The 22q deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH test is a specialised genetic test. It uses a technique called Fluorescence In Situ Hybridisation (FISH) to detect missing or extra genetic material in the chromosome 22q11.2 region. Doctors prescribe this test when a patient shows signs of DiGeorge syndrome, velocardiofacial syndrome (VCFS), or related conditions. It is also known as the VCFS test or the 22q11.2 Deletion FISH test, and it can be performed at any age, including before birth.

What Does a 22q Deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH Test Measure?

This test examines chromosome 22 for changes in a specific region called 22q11.2. The laboratory analyses FISH signal patterns to determine whether genetic material at this location is present, missing, or duplicated.

The test looks for the following findings:

Finding	Signal Pattern	Interpretation
Normal result	Two signals (one on each chromosome 22)	No deletion or duplication detected
Deletion detected	One signal present	Consistent with 22q11.2 deletion syndrome
Duplication detected	Three signals present	Consistent with 22q11.2 duplication syndrome

The test uses two probes: one targets the critical HIRA locus at 22q11.2 and the other acts as a control at 22q13.3. At least 10 metaphase cells and 20 interphase cells are examined.

Why is a 22q Deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH Test Done?

This test is used when a doctor suspects a chromosomal change in the 22q11.2 region based on physical findings or a prenatal scan. Below are the key reasons it is ordered.

Common Symptoms That May Require This Test

Several clinical signs may lead a doctor to recommend the VCFS test:

Congenital heart defects, particularly conotruncal malformations such as ventricular septal defect or tetralogy of Fallot
Palatal abnormalities, including cleft palate or velopharyngeal incompetence (difficulty closing the palate during speech)
Recurrent infections due to an immune deficiency
Distinctive facial features noted by a clinician
Developmental delay or learning difficulties
Hypocalcaemia, meaning low calcium levels in the blood
Abnormal findings on a foetal cardiac scan during pregnancy

Conditions This Test Can Help Detect

The 22q deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH test can help identify the following conditions:

DiGeorge syndrome
Velocardiofacial syndrome (VCFS)
Conotruncal anomaly face syndrome (CTAF)
22q11.2 duplication syndrome
Conditions associated with thymic hypoplasia (underdeveloped thymus gland), cleft palate, or heart defects

22q deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH Test During Pregnancy

This test is an important tool for prenatal diagnosis. When a foetal cardiac anomaly or other relevant finding is detected during pregnancy, testing of the foetus can be performed using amniotic fluid or chorionic villus samples. Prenatal FISH analysis of the 22q11.2 region helps families and medical teams plan for the baby's care before birth.

How to Prepare and What to Expect

The VCFS test procedure is straightforward, but knowing what to expect beforehand can make the process easier for patients and families.

Do You Need to Fast?

No fasting is required before this test. You can eat and drink normally on the day of sample collection.

Practical Tips Before Your Test

The following steps will help ensure a smooth collection experience:

Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
Inform your doctor of all medications you are currently taking, as some may need to be noted on the request form
Genetic counselling before testing is advisable to understand what the results may mean for you and your family
If collecting a peripheral blood sample at home, ensure the phlebotomist is informed that the sample must be kept at room temperature (do not refrigerate or freeze)
Arrange for the sample to reach the laboratory promptly; timely transport supports sample quality

Step-by-Step Procedure

Different sample types may be collected depending on the clinical situation. Here is what to expect for each:

Peripheral Blood (can be collected at home):

A trained phlebotomist cleans a vein in your arm and draws approximately 3 mL of blood into a sodium heparin (green-top) tube.
For newborns or small infants, 2 to 3 ml is sufficient.
The sample is labelled and kept at room temperature for transport to the cytogenetics laboratory.
In the laboratory, blood lymphocytes are cultured and harvested to prepare metaphase chromosome spreads.
Dual-colour FISH analysis is performed on the prepared cells.
A qualified cytogeneticist reviews the signal patterns and issues an interpretative report.

Bone Marrow, Chorionic Villus Sampling (CVS), Amniotic Fluid, or Cord Blood (collected in a hospital setting):

These samples are collected by a specialist in a clinical or hospital environment; home collection is not available for these sample types.
For CVS, a small amount of placental tissue is collected between 10 and 12 weeks of pregnancy. For amniocentesis, amniotic fluid is collected after 15 weeks.
Cord blood is collected at the time of delivery when indicated.
All samples are transported to the laboratory according to specified handling instructions.
Cells are cultured, and chromosome spreads are prepared before FISH analysis is carried out.
The laboratory report is issued once sufficient cells have been analysed.

Factors That Can Affect Accuracy

Several factors can influence the reliability of the VCFS test:

Poor sample quality, such as a clotted or degraded specimen
Delays in transporting the sample to the laboratory
Very small deletions that fall outside the probe's target area (estimated to affect around 8% of cases)
Low-level mosaicism, where only a small proportion of cells carry the deletion, which FISH may not detect
Very distal deletions at chromosome 22q13.3 may also go undetected

Understanding Your 22q deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH Test Results

Results from this test must always be reviewed with a qualified geneticist or doctor in the context of your clinical history and family background. The table below provides a general guide to interpreting FISH signal patterns.

Result	Signal Pattern	What it May Mean
Normal (Negative)	Two signals per metaphase cell	No deletion or duplication detected at 22q11.2
Positive (Deletion)	One signal	Consistent with 22q11.2 deletion syndrome (DiGeorge/VCFS)
Positive (Duplication)	Three signals	Consistent with 22q11.2 duplication syndrome

These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.

Results During Special Conditions

This test has known detection limits that may affect interpretation in some cases.

FISH identifies approximately 95% of individuals with 22q11.2 deletion syndrome. Around 8% of deletions may fall outside the probe's binding area and go undetected. If clinical suspicion remains high after a normal FISH result, your doctor may recommend chromosomal microarray analysis (CMA) as a follow-up. Additionally, FISH is not designed to detect low-level mosaicism.

How to Maintain Healthy Levels

Because this is a genetic test detecting a chromosomal change, lifestyle changes do not alter the underlying genetic result. General guidance includes the following:

If a deletion is confirmed, a care team including cardiologists, immunologists, speech therapists, and geneticists can help manage associated health needs
Genetic counselling is strongly recommended for family members, especially parents who may be planning future pregnancies
Regular follow-up with your healthcare team helps monitor any associated conditions over time

Lupin Diagnostics 22q deletion LSI Di George / Velo Cardio Facial Syndrome (VCFS)-FISH Test Price and Home Collection

The VCFS test cost at Lupin Diagnostics starts at ₹7,200. Home sample collection is available for peripheral blood samples. Other sample types, such as bone marrow, CVS, amniotic fluid, and cord blood, require collection at a hospital or clinical centre.

City	Approximate Price (₹)
BHOPAL	7200
CHENNAI	7200
HYDERABAD	7200
KOLKATA	7200
NAVI MUMBAI	7200
PUNE	7200

Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.

How to Book

You can do a VCFS test online booking through the following steps:

Select the test on the Lupin Diagnostics website.
Choose your city and preferred time slot.
Opt for home sample collection by a certified phlebotomist for peripheral blood, or visit your nearest Lupin Diagnostics centre for other sample types.
Receive your report via email or WhatsApp within the stipulated turnaround time.

Home Collection

Home collection is available for the peripheral blood component of this test across multiple cities. All samples are processed in NABL-accredited laboratories by experienced cytogenetics teams. Digital reports are accessible via email or WhatsApp once ready.

Frequently Asked Questions

The 22q deletion LSI DiGeorge / VCFS-FISH test detects missing or duplicated genetic material in the chromosome 22q11.2 region using fluorescence in situ hybridisation (FISH) technology. It helps confirm or rule out DiGeorge syndrome, velocardiofacial syndrome (VCFS), and related conditions. Doctors prescribe it based on clinical signs such as congenital heart defects, immune deficiency, or characteristic facial features.

This test is recommended for infants, children, or adults showing signs of 22q11.2 deletion syndrome, including congenital heart defects, palatal abnormalities, low calcium levels, immune deficiency, or developmental delay. It is also used prenatally when a fetal cardiac anomaly is identified on ultrasound.

No fasting is required. You can eat and drink as normal before the test. For peripheral blood testing, only a blood sample collected in a sodium heparin tube is required.

At Lupin Diagnostics, the standard report turnaround time is 9 days. This allows sufficient time for cell culture, chromosome preparation, FISH analysis, and expert interpretation.

Yes. Prenatal testing is possible using amniotic fluid collected through amniocentesis after 15 weeks of pregnancy or chorionic villus sampling (CVS) performed between 10 and 12 weeks of pregnancy. These procedures are carried out by specialists in a hospital setting.

FISH detects approximately 95 percent of individuals with 22q11.2 deletion syndrome. However, around 8 percent of deletions may lie outside the probe binding site and may not be identified. If clinical suspicion remains after a normal FISH result, your doctor may recommend chromosomal microarray analysis for further evaluation.

No. This test is designed to detect deletions and duplications specifically within the 22q11.2 region. Very small deletions, distal deletions at chromosome 22q13.3, and low-level mosaicism may not be detected. Your geneticist will advise whether additional testing is appropriate based on your clinical findings.