Home TestFish Neonatal Screen 5 Probes For Trisomy 13 18 21 X Y Test

FISH - Neonatal Screen (5 Probes for Trisomy 13, 18, 21, X, Y Test): Booking, Price and Results

About FISH - Neonatal Screen

Field	Value
Also Known As	FISH Aneuploidy Panel, Fluorescence in Situ Hybridisation Neonatal Screen, Trisomy FISH Screen (13, 18, 21, X, Y), Neonatal Aneuploidy FISH Panel
Sample Type	Venous blood (peripheral blood or cord blood)
Fasting Required	No
Report Time	24 to 72 hours (rapid result due to uncultured cell analysis)
Recommended For	Newborns of any sex with suspected chromosomal abnormalities
Price	Starting at ₹10,300

What Is a FISH - Neonatal Screen (5 Probes for Trisomy 13, 18, 21, X, Y Test)?

The Fluorescence in Situ Hybridisation (FISH) Neonatal Screen is a cytogenetic test that checks a newborn's blood for abnormal chromosome numbers. It analyses five specific chromosomes: 13, 18, 21, X and Y. Doctors order it when a newborn shows signs that may suggest a chromosomal disorder. A small blood sample from a vein or the umbilical cord is used for the test.

What Does a FISH - Neonatal Screen (5 Probes for Trisomy 13, 18, 21, X, Y Test) Measure?

The Aneuploidy FISH Panel checks whether each of the five target chromosomes is present in the correct number. An extra or missing chromosome is called an aneuploidy. The test examines the following chromosomes:

Chromosome	What It Detects
Chromosome 13	Trisomy 13 (Patau syndrome): an extra copy of chromosome 13, associated with severe physical and developmental abnormalities
Chromosome 18	Trisomy 18 (Edwards syndrome): an extra copy linked to growth delays and serious organ defects
Chromosome 21	Trisomy 21 (Down syndrome): an extra copy causing intellectual disability and congenital abnormalities
X Chromosome	Turner syndrome in females: a missing or incomplete X chromosome affecting growth, development and ovarian function
Y Chromosome	Extra or missing sex chromosomes, such as Klinefelter syndrome (XXY) and XYY syndrome in males

Why Is a FISH - Neonatal Screen (5 Probes for Trisomy 13, 18, 21, X, Y Test) Done?

Doctors order FISH testing for trisomies 13, 18, 21, X, and Y when a newborn's examination raises concern for a possible chromosomal condition. The results help the care team act quickly and plan appropriate support for the baby and family.

Common Symptoms That May Require This Test

The following signs in a newborn may prompt a doctor to order this test:

Unusual facial or body features (dysmorphic features) noted at birth
Low muscle tone (hypotonia) with poor feeding or a weak cry
Congenital heart defects detected shortly after birth
Abnormal results from prenatal screening during pregnancy
Poor growth or very low birth weight
Extra fingers or toes, cleft lip, or other structural abnormalities
Multiple congenital anomalies present at the same time
Suspected chromosomal disorder based on clinical examination

Conditions This Test Can Help Detect

The prenatal/neonatal aneuploidy screen can help identify the following chromosomal conditions:

Trisomy 13 (Patau syndrome): associated with heart defects, brain abnormalities, cleft lip or palate, extra fingers or toes, small or underdeveloped eyes and hypotonia
Trisomy 18 (Edwards syndrome): associated with severe intellectual disability, clenched fists with overlapping fingers, a small jaw, heart defects and organ anomalies
Trisomy 21 (Down syndrome): a common chromosomal condition often identified at birth with characteristic physical features and intellectual disability
Turner syndrome (45, X): affects females and is associated with short stature and reduced ovarian function
Sex chromosome aneuploidies in males, including Klinefelter syndrome (XXY) and XYY syndrome in males

How to Prepare and What to Expect

This test is performed on a newborn baby, so preparation is straightforward. The following guidance helps ensure the sample is collected correctly and reaches the laboratory in good condition. The steps below explain what happens during and after the blood collection.

Do You Need to Fast?

No fasting is required for this test. The sample can be collected at any time without dietary restrictions.

Practical Tips Before Your Test

Keep the following points in mind before the sample is collected:

Inform the doctor or phlebotomist of any family history of genetic conditions
Ensure the sample container is clearly labelled with the newborn's details
Note that this FISH neonatal screen is usually ordered alongside a complete chromosome analysis or chromosomal microarray, not as a standalone test

Step-by-Step Procedure

The sample collection process for this test follows these steps:

A trained phlebotomist collects a small sample of blood from the baby's vein or umbilical cord.
The blood is collected into a tube containing sodium heparin (a common anticoagulant); 2 to 4 mL is typically sufficient for a newborn.
The tube is gently inverted several times to mix the blood with the anticoagulant.
In the laboratory, fluorescently labelled DNA probes are applied to the blood cells to attach to specific chromosome regions.
Two trained technologists independently examine 50 cell nuclei each (100 total) under a fluorescence microscope.
The results are typically available within 24 to 72 hours.

Factors That Can Affect Accuracy

Several factors may influence the quality of the test result:

Poor sample quality or insufficient blood volume
Using the wrong collection tube or anticoagulant
Exposure of the sample to extreme temperatures
Delay in transporting the sample to the laboratory
Low cell viability at the time of analysis

Understanding Your FISH - Neonatal Screen (5 Probes for Trisomy 13, 18, 21, X, Y Test) Results

Results from this test are interpreted by a specialist alongside the baby's clinical examination and any other tests. The table below shows what a normal result looks like for each chromosome probe.

Parameter	Normal Result	What It Means
Chromosome 13	2 signals (disomy)	Normal: no extra copy detected
Chromosome 18	2 signals (disomy)	Normal: no extra copy detected
Chromosome 21	2 signals (disomy)	Normal: no extra copy detected
X Chromosome	2 signals (XX) in females; 1 signal in males	Normal sex chromosome pattern
Y Chromosome	1 signal in males; 0 signals in females	Normal sex chromosome pattern

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

Results During Special Conditions

A few important limitations apply to this test's results:

Low-level mosaicism, a condition where only some cells carry the chromosomal abnormality, may not be detected by this test. If mosaicism is suspected based on clinical findings, additional testing may be needed.

This test screens only chromosomes 13, 18, 21, X, and Y. It does not detect abnormalities in other chromosomes or structural changes within a chromosome. A normal result does not rule out all possible chromosomal or genetic conditions.

How to Maintain Healthy Levels

Because chromosomal abnormalities arise randomly during cell division, they cannot be prevented through diet or lifestyle changes. The following steps support the best outcomes after diagnosis:

Seek genetic counselling to understand the result and what it means for the family
Connect with an early intervention programme, as developmental support started early can improve long-term outcomes for affected children
Follow up with a paediatric specialist for a complete clinical assessment and any additional testing recommended

Lupin Diagnostics FISH - Neonatal Screen (5 Probes for Trisomy 13, 18, 21, X, Y Test) Price and Home Collection

The FISH Neonatal Screen is available at Lupin Diagnostics with home collection by a certified phlebotomist. FISH tests for aneuploidy screening price typically starts at ₹10,300, depending on the location and laboratory. The table below shows indicative prices across major cities in India:

City	Approximate Price (₹)
Mumbai	₹10,300
Delhi	₹10,300
Bengaluru	₹10,300
Pune	₹10,300
Chennai	₹10,300
Kolkata	₹10,300

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

How to Book

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

Home Collection

Home collection for this test is available in cities across India through Lupin Diagnostics. All samples are processed in NABL-accredited laboratories by trained cytogenetic technologists. Digital reports are accessible via email or WhatsApp once ready.

Frequently Asked Questions

The FISH neonatal screen is used to check whether a newborn has an abnormal number of chromosomes 13, 18, 21, X or Y. It uses fluorescent DNA probes to count chromosome copies in the baby's blood cells. It is a rapid and reliable method for identifying common chromosomal conditions shortly after birth. Results are typically available within 24 to 72 hours.

A doctor typically orders the neonatal aneuploidy screen when a newborn shows physical signs suggesting a chromosomal condition, such as unusual facial features, heart defects, low muscle tone, or multiple abnormalities present at birth. It may also be ordered if prenatal screening raised concerns that were not investigated further during pregnancy.

Results from the Fluorescence in Situ Hybridisation (FISH) Neonatal Screen are typically available within 24 to 72 hours from when the laboratory receives the sample. This is significantly faster than traditional chromosome analysis, which can take one to two weeks.

A normal result means no aneuploidy was detected for the five chromosomes tested. However, this test does not check all chromosomes and cannot detect structural chromosomal changes. It is intended to be used alongside a full chromosome analysis or a chromosomal microarray to provide a complete picture. A normal result should always be reviewed by a doctor alongside full clinical and cytogenetic findings.

An abnormal result will be reviewed by a specialist, and a complete chromosome analysis is usually recommended as the next step. Genetic counselling is also advised to help the family understand the findings, the condition involved and the available support options.

The technology used is similar, but this specific test is performed on the newborn's blood after birth. Prenatal FISH screening uses amniotic fluid or chorionic villus samples collected during pregnancy, whereas this test is for neonates.

Yes, in some cases. If the baby has low-level mosaicism, where only a small number of cells carry the chromosomal change, this test may not detect it. The test is also limited to chromosomes 13, 18, 21, X and Y. For a full assessment, this screen should be ordered along with additional cytogenetic testing.