FISH - Trisomy 8 Test: Booking, Price, and Results
About FISH - Trisomy 8 Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | FISH for Trisomy 8, FISH CEP8, Chromosome 8 Enumeration by FISH, +8 Detection |
| Sample Type | Bone marrow aspirate (preferred) or peripheral blood |
| Fasting Required | Not required |
| Report Time | 10 Days |
| Recommended For | Adults suspected of haematological malignancies such as AML, MDS, or CML; both genders |
| Price | Starting at ₹4,600 |
What is a FISH - Trisomy 8 Test?
The FISH - Trisomy 8 test is a specialised chromosomal analysis that detects whether cells carry an extra copy of chromosome 8, a condition known as trisomy 8. FISH stands for Fluorescence In Situ Hybridisation, a laboratory technique that uses fluorescent probes to identify specific chromosomal changes. The test is also known as FISH CEP8 or Chromosome 8 Enumeration by FISH. Doctors typically order this test when blood counts or clinical findings suggest a possible blood disorder or bone marrow disease.
What Does a FISH - Trisomy 8 Test Measure?
The FISH - Trisomy 8 test procedure analyses two key aspects of chromosome 8 in your cells. Here is what the test examines:
| Component | What It Means |
|---|---|
| Chromosome 8 copy number | Counts how many copies of chromosome 8 are present in each cell; normal cells carry two copies |
| Fluorescent signal count per cell | Each signal represents one copy of chromosome 8; three or more signals in a significant number of cells indicate trisomy 8 |
| Percentage of abnormal cells | If more than 3% of the cells analysed show three chromosome 8 signals, the result is considered positive for trisomy 8 |
Typically, 200 interphase cells (cells that are not actively dividing) are scored. For minimal residual disease monitoring, up to 500 cells may be analysed.
Why is a FISH - Trisomy 8 Test Done?
A doctor may recommend the FISH - Trisomy 8 test when a patient shows signs of a blood or bone marrow disorder. The test helps confirm or rule out trisomy 8 as a contributing chromosomal change.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to order this test:
- Deep creases on the palms or soles, absent kneecaps, joint contractures, or spinal deformities
- Broad nasal bridge, prominent forehead, high-arched palate, or widely spaced eyes
- Mild to moderate intellectual disability or developmental delay
- Congenital heart defects
- Kidney or liver abnormalities
- Absence of the corpus callosum (brain structure connecting the hemispheres)
- Persistent fever or unexplained elevated inflammatory markers
- Recurrent oral, genital, or gastrointestinal ulcers
- Fatigue and weakness
- Frequent infections
- Easy bruising or abnormal bleeding
- Enlarged spleen or liver (hepatosplenomegaly)
Conditions This Test Can Help Detect
This test can help identify chromosomal changes linked to several blood disorders:
- Acute myeloid leukaemia (AML): trisomy 8 is the most common numerical chromosome change in AML, found in 10 to 15% of patients
- Myelodysplastic syndromes (MDS): trisomy 8 is the most common chromosome gain in MDS, present in 15 to 20% of patients
- Chronic myeloid leukaemia (CML): trisomy 8 may appear as a secondary chromosomal change alongside the Philadelphia chromosome
- Myeloproliferative neoplasms (MPNs) and lymphoproliferative disorders
- Warkany syndrome, a rare condition caused by constitutional trisomy 8 mosaicism
FISH - Trisomy 8 Test for Chronic Disease Monitoring
This test is used to track trisomy 8 clones during and after treatment for blood disorders. It can complement standard cytogenetic testing when results are unclear, and may help assess treatment response in patients with AML or MDS. Regular monitoring using FISH can assist doctors in making decisions about ongoing care.
How to Prepare and What to Expect
Understanding the preparation and FISH - Trisomy 8 test procedure in advance can help you feel more at ease on the day of sample collection.
Do You Need to Fast?
No fasting is required for the test itself. However, if your doctor uses sedation during the bone marrow collection, you may need to avoid food and drink from the night before.
Practical Tips Before Your Test
Keep the following in mind before your appointment:
- Bring a detailed clinical history, including your symptoms, previous test results, and any relevant medical records, as this is required for the test
- Inform your doctor about all medications you are currently taking, especially blood thinners or anticoagulants
- Disclose any history of bleeding disorders or clotting problems
- Wear loose, comfortable clothing for easy access to the collection site
- Arrange for a family member or friend to accompany you if sedation is planned
- Stay hydrated unless your doctor has asked you to fast
Step-by-Step Procedure
The test involves two possible sample types: bone marrow aspirate (preferred) or peripheral blood. Here is what to expect:
Bone Marrow Collection:
- You will be asked to lie still on a procedure table; a local anaesthetic is applied to numb the area, usually near the hip bone
- A specialist inserts a needle into the bone to draw out a small bone marrow sample (approximately 2 to 3 ml) into a sodium heparin tube
- The sample is labelled and stored at 2 to 8°C for refrigerated transport to the laboratory
Peripheral Blood Collection:
- A trained phlebotomist cleans the skin on your inner arm and draws approximately 3 ml of blood into a lavender-top EDTA tube
- The sample is sealed, labelled with your details, and transported to the laboratory under refrigerated conditions
Factors That Can Affect Accuracy
Several factors can influence the reliability of your results:
- Poor sample quality, including clotted or frozen specimens, which are not acceptable
- Use of the wrong anticoagulant tube (sodium heparin is required)
- Delay in sample transport (specimens should reach the laboratory within 24 hours)
- Low cell viability in the sample
- Dilution of the sample with normal cells, which may reduce detection sensitivity
Understanding Your FISH - Trisomy 8 Test Results
Results from this test must be reviewed alongside your clinical history and other laboratory findings. The table below outlines the general interpretation of results.
| Parameter | Normal Finding | Abnormal Finding |
|---|---|---|
| Chromosome 8 signals per cell | 2 signals (disomy) in at least 97% of cells analysed | 3 or more signals per cell |
| Cells with 3 signals | Less than 3% of cells analysed | More than 3% of cells analysed |
| Overall result | Normal chromosome 8 copy number | Trisomy 8 positive (abnormal clone detected) |
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
Trisomy 8 is almost always found in mosaic form, meaning only some cells carry the extra chromosome. In certain cases, peripheral blood may show a normal result while bone marrow or tissue samples reveal the abnormality. Constitutional trisomy 8 mosaicism, a congenital condition, must also be distinguished from trisomy 8 that is acquired as part of a blood disorder, as the two have different clinical implications.
How to Maintain Healthy Levels
These general wellness tips support overall blood health:
- Attend all scheduled follow-up appointments if you have been diagnosed with a haematological condition
- Eat a balanced diet with adequate iron, folate, and vitamin B12 to support healthy blood cell production
- Report any new or worsening symptoms, such as unexplained fatigue, bleeding, or frequent infections, to your doctor without delay
Lupin Diagnostics FISH - Trisomy 8 Test Price
The FISH - Trisomy 8 test cost at Lupin Diagnostics starts at ₹4,600. This test requires a visit to a Lupin Diagnostics centre; home collection is not available due to the specialised nature of the sample collection procedure.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 4600 |
| CHENNAI | 4600 |
| HYDERABAD | 4600 |
| KOLKATA | 4600 |
| NAVI MUMBAI | 4600 |
| PUNE | 4600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Follow these steps to book your FISH - Trisomy 8 test online with Lupin Diagnostics:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred centre location.
- Visit the centre at your scheduled time for sample collection.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
This test detects whether cells carry an extra copy of chromosome 8, one of the most common chromosomal changes seen in blood disorders. It is primarily ordered to help diagnose or monitor conditions such as acute myeloid leukaemia (AML), myelodysplastic syndromes (MDS), and chronic myeloid leukaemia (CML).
The preferred sample is bone marrow aspirate collected by a specialist using a needle inserted near the hip bone under local anaesthesia. In some cases, peripheral blood may be used if abnormal cells are circulating in the bloodstream. Both samples are collected in sodium heparin tubes.
Yes. FISH is a rapid and sensitive method for detecting numerical chromosomal changes. It can identify abnormal clones even in a small percentage of cells, making it particularly useful for monitoring residual disease after treatment, where standard karyotyping may miss low-level abnormalities.
A positive result means that an abnormal cell clone carrying three copies of chromosome 8 has been detected. Your haematologist will correlate this finding with your symptoms, blood counts, and other test results to arrive at a diagnosis and plan further management.
No. A negative result means that trisomy 8 was not detected, but it does not rule out other chromosomal or genetic abnormalities. Other changes may require different FISH probes or conventional karyotyping to identify. Your doctor will determine whether additional testing is needed.
At Lupin Diagnostics, reports are delivered within 10 days. This accounts for the specialised laboratory processing involved, including cell culture preparation, probe hybridisation, and microscopic analysis by a trained cytogeneticist.
No, this test cannot be done at home. The sample collection, particularly bone marrow aspiration, requires a trained specialist and a clinical setting. The FISH - Trisomy 8 test must be performed at a Lupin Diagnostics centre or a hospital equipped for the procedure.
FISH - Trisomy 8 Test: Booking, Price, and Results
