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FISH - Monosomy 7 / del(7q31) for AML / MDS Test

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FISH - Monosomy 7 / del(7q31) for AML / MDS Test

Short Name: FISH Monosomy 7/del(7q31)

Also known as: FISH for Monosomy 7, FISH del(7q31) Test, Chromosome 7 FISH Analysis, Fluorescence In Situ Hybridization for 7q Deletion, FISH Panel for AML/MDS

FISH - Monosomy 7 / del(7q31) for AML / MDS Test test available at DNA Labs India for ₹6,000. Uses FISH (Fluorescence In Situ Hybridization) on Whole Blood or Bone Marrow Aspirate samples. Results in Reports are available within 4 working days from sample receipt at the laboratory. Samples must be submitted by 4:00 PM daily for same-day processing initiation.. Free home collection in 300+ cities across India.

FISHAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The primary purpose of the FISH - Monosomy 7 / del(7q31) test is to detect specific chromosomal abnormalities involving chromosome 7 in patients suspected of having or diagnosed with Acute Myeloid Leukemia (AML) or Myelodysplastic Syndromes (MDS). This test aids in diagnosis confirmation, prognostic risk stratification as per ELN and IPSS classification systems, treatment planning decisions including eligibility for allogeneic stem cell transplantation, monitoring of disease progression or relapse, and differentiation between de novo and therapy-related myeloid neoplasms.

Test Code
618
CPT Code
88271, 88275
ICD Code
C92.0, D46.9
Price
₹6,000
Sample Type
Whole Blood or Bone Marrow Aspirate
Result Time
Reports are available within 4 working days from sample receipt at the laboratory. Samples must be submitted by 4:00 PM daily for same-day processing initiation.
Fasting Required
No
Method
FISH (Fluorescence In Situ Hybridization)
Step 1

Sample Collection

Duly filled Chromosome & FISH Analysis Requisition Form (Form 17) is mandatory. Inform the physician about any recent blood transfusions or chemotherapy, as these may affect sample quality. No fasting is required for this test.

Method: Venipuncture (blood) / Bone marrow aspiration procedure

Step 2

Laboratory Analysis

Whole blood sample (5 mL minimum 3 mL) is collected via venipuncture into 2 Green Top (Sodium Heparin) tubes. Alternatively, 4 mL (minimum 2 mL) of bone marrow aspirate is collected by the referring hematologist from 2 Green Top (Sodium Heparin) tubes.

Step 3

Report Delivery

Samples must be shipped at 18–22°C (room temperature). DO NOT FREEZE. Samples should reach the laboratory within 48 hours of collection for optimal results. The patient may resume normal activities after sample collection.

Timeline: Reports are available within 4 working days from sample receipt at the laboratory. Samples must be submitted by 4:00 PM daily for same-day processing initiation.

Patient Instructions

1
Before the Test:Ensure the Chromosome & FISH Analysis Requisition Form (Form 17) is duly completed. No fasting is required. Inform your doctor about any recent blood transfusions, chemotherapy, or bone marrow procedures, as these may influence the sample. No other specific preparation is needed.
2
During the Test:A blood sample (5 mL) will be drawn from a vein in your arm via venipuncture, or a bone marrow aspirate (4 mL) will be collected by the referring hematologist. The sample is placed in Sodium Heparin (Green Top) tubes and sent to the cytogenetics laboratory for FISH analysis. The procedure typically takes 10–15 minutes for blood collection.
3
After the Test:After blood collection, a small bandage will be placed on the puncture site. You may resume normal activities immediately. If a bone marrow aspiration was performed, follow your doctor's post-procedure instructions. Results will be available within 4 working days through the online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

The primary purpose of the FISH - Monosomy 7 / del(7q31) test is to detect specific chromosomal abnormalities involving chromosome 7 in patients suspected of having or diagnosed with Acute Myeloid Leukemia (AML) or Myelodysplastic Syndromes (MDS). This test aids in diagnosis confirmation, prognostic risk stratification as per ELN and IPSS classification systems, treatment planning decisions including eligibility for allogeneic stem cell transplantation, monitoring of disease progression or relapse, and differentiation between de novo and therapy-related myeloid neoplasms.

How to Prepare

  • Collect sample in 2 Green Top (Sodium Heparin) tubes only
  • Whole blood: 5 mL total (minimum 3 mL)
  • Bone marrow: 4 mL total (minimum 2 mL)
  • Ship at 18–22°C room temperature; DO NOT FREEZE
  • Complete and attach Chromosome & FISH Analysis Requisition Form (Form 17)
  • Transport sample to laboratory within 48 hours of collection
  • Label sample clearly with patient details and date/time of collection

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Monosomy 7 and del(7q) are among the most frequently observed chromosomal aberrations in myeloid neoplasms. These abnormalities are associated with an unfavorable prognosis and poor response to conventional chemotherapy. Early detection through FISH testing allows clinicians to risk-stratify patients and consider targeted therapeutic approaches or allogeneic stem cell transplantation in eligible candidates. I recommend this test for all newly diagnosed AML and MDS patients as part of baseline cytogenetic workup."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood or Bone Marrow Aspirate
Sample Volume5 mL (3 mL min.) whole blood OR 4 mL (2 mL min.) bone marrow
Container2 Green Top (Sodium Heparin) tubes
Collection MethodVenipuncture (blood) / Bone marrow aspiration procedure

Sample Stability

Room Temperature (18–22°C)
Refrigerator (2–8°C)
Frozen
Sample Rejection Criteria:
  • Clotted sample
  • Sample collected in incorrect tube type (EDTA or non-heparin tubes)
  • Sample received frozen or at temperatures outside 18–22°C range
  • Sample received after 48 hours from time of collection
  • Inadequate sample volume (below minimum requirement)
  • Missing or incomplete Chromosome & FISH Analysis Requisition Form (Form 17)
  • Heavily hemolyzed sample

Understanding Your Results

The FISH test for Monosomy 7 / del(7q31) evaluates interphase cells from peripheral blood or bone marrow for the presence of chromosomal abnormalities involving chromosome 7. Results should be interpreted in conjunction with clinical findings, morphological evaluation, and other laboratory parameters by a qualified hematologist or oncologist.
📊

Negative for Monosomy 7 / del(7q31)

Two FISH signals for both CEP7 and 7q31 locus-specific probe observed in ≥97% of nuclei analyzed. This indicates a normal disomic pattern for chromosome 7 with no evidence of monosomy 7 or 7q31 deletion.

📊

Positive for Monosomy 7

One FISH signal for CEP7 probe observed in a significant proportion of interphase nuclei (>3% threshold), consistent with loss of an entire copy of chromosome 7. This is classified as an adverse-risk cytogenetic abnormality in both AML (ELN classification) and MDS (IPSS/IPSS-R).

📊

Positive for del(7q31)

Loss of one 7q31 locus-specific signal with retention of both CEP7 signals, indicating an interstitial deletion of the long arm of chromosome 7 at band q31. This may be an isolated finding or part of a complex karyotype. Classified as intermediate to adverse risk depending on the clinical context and co-existing abnormalities.

📊

Positive for Monosomy 7 with concurrent del(7q31)

Detection of both monosomy 7 and deletion of 7q31 on the remaining chromosome 7 copy. This pattern indicates loss of one chromosome 7 and a deletion on the retained copy, suggesting biallelic loss of the 7q31 region. This is associated with a particularly poor prognosis.

📊

Equivocal / Inconclusive

Results near the cutoff threshold or technical issues preventing definitive interpretation. Repeat testing on a fresh sample or correlation with conventional karyotyping and additional molecular studies may be recommended.

⚠️ When to Consult a Doctor:

Consult your hematologist or oncologist if you experience persistent fatigue, unexplained bruising or bleeding, recurrent infections, shortness of breath, bone pain, or unintentional weight loss. If your FISH result is positive for Monosomy 7 or del(7q31), discuss treatment options and prognosis with your doctor. Genetic counseling may also be recommended.

Limitations

  • ⚠FISH detects only targeted chromosomal abnormalities and does not replace a comprehensive karyotype analysis
  • ⚠False negatives may occur if the deletion is below the resolution threshold of the probe used
  • ⚠Low-level mosaicism (<5% abnormal cells) may not be reliably detected
  • ⚠This test does not detect point mutations or small intragenic alterations
  • ⚠Results should always be correlated with morphological, clinical, and other laboratory findings
  • ⚠Cryptic or complex rearrangements involving chromosome 7 may require additional molecular testing

Risks & Considerations

  • ●Minimal risk associated with blood draw: minor bruising, slight pain at puncture site, or rare infection
  • ●Bone marrow aspiration carries additional risks including localized pain, bleeding at the aspiration site, and rarely, infection
  • ●No known risks from the FISH procedure itself as it is performed on the collected sample in the laboratory

Interfering Factors

  • ●Sample hemolysis or clotting may compromise interphase cell quality
  • ●Excessive delay in sample transport beyond 48 hours may affect cell viability
  • ●Fixation artifacts in bone marrow samples may produce ambiguous signals
  • ●Overlapping nuclei can interfere with accurate signal enumeration
  • ●Prior treatment with certain chemotherapeutic agents may affect probe hybridization efficiency

Compare With Similar Tests

TestFISH - Monosomy 7 / del(7q31) for AML / MDS TestConventional KaryotypingChromosomal Microarray (CMA)NGS-based Molecular Profiling
ComparisonFISH - Monosomy 7 / del(7q31) for AML / MDS Test

Frequently Asked Questions

What is the FISH - Monosomy 7 / del(7q31) test?
This is a Fluorescence In Situ Hybridization (FISH) test that detects the loss (monosomy) of chromosome 7 or a deletion at the 7q31 locus on the long arm of chromosome 7. These chromosomal abnormalities are commonly associated with Acute Myeloid Leukemia (AML) and Myelodysplastic Syndromes (MDS). The test uses fluorescent DNA probes that bind to specific chromosomal regions and are visualized under a fluorescence microscope.
Why is this test recommended for AML and MDS patients?
Monosomy 7 and del(7q) are among the most common recurrent chromosomal abnormalities in myeloid neoplasms, occurring in approximately 8% of de novo AML and 5–10% of de novo MDS cases. Detection of these abnormalities is critical because they are classified as adverse-risk features, meaning the disease may not respond well to standard chemotherapy. This information guides treatment decisions, including consideration of allogeneic stem cell transplantation.
What sample is required for this test?
The test requires either 5 mL (minimum 3 mL) of whole blood or 4 mL (minimum 2 mL) of bone marrow aspirate, collected in 2 Green Top (Sodium Heparin) tubes. Bone marrow sampling is performed by a hematologist. A duly filled Chromosome & FISH Analysis Requisition Form (Form 17) is mandatory with the sample.
Is fasting required before giving a sample for this test?
No, fasting is not required for the FISH Monosomy 7 / del(7q31) test. You can eat and drink normally before sample collection. However, ensure that the requisition form (Form 17) is properly completed before sample collection.
How long does it take to get the results of this test?
Results are typically available within 4 working days from the date the sample is received at the laboratory. Samples must be submitted by 4:00 PM daily for same-day processing initiation. Reports can be accessed through the online portal, email, or WhatsApp.
What does a positive result for Monosomy 7 or del(7q31) mean?
A positive result indicates the presence of chromosomal abnormality involving chromosome 7 in your blood or bone marrow cells. Monosomy 7 means one entire copy of chromosome 7 is lost, while del(7q31) indicates a deletion at the 7q31 region. These are adverse-risk abnormalities in AML and MDS, associated with poor response to standard chemotherapy and unfavorable prognosis. Your doctor will discuss appropriate treatment options based on these results.
What is the difference between Monosomy 7 and del(7q31)?
Monosomy 7 refers to the complete loss of one copy of chromosome 7, meaning only one chromosome 7 is present instead of the normal two. del(7q31) refers to a deletion (loss) of a specific region on the long arm of chromosome 7 at band q31, while the chromosome itself is still present. Both are clinically significant and associated with adverse outcomes in AML and MDS, but monosomy 7 generally carries a worse prognosis.
Is this test covered by health insurance?
Yes, this test is covered by most private health insurance plans when it is medically indicated and prescribed by your treating physician. CGHS coverage is generally available for FISH tests. For other government schemes such as PMJAY, ECHS, and ESIC, coverage may vary depending on the empanelled facility and approved packages. It is advisable to check with your insurance provider before testing.
Can this test detect all types of AML and MDS?
No, this specific FISH test targets only Monosomy 7 and del(7q31) abnormalities. AML and MDS can be associated with many other chromosomal and genetic abnormalities such as t(8;21), inv(16), t(15;17), 5q deletion, and trisomy 8, among others. For comprehensive cytogenetic evaluation, a complete FISH panel or conventional karyotyping is recommended alongside this test.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test when booked online. The service is available across major cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. A trained phlebotomist will visit your location to collect the blood sample in the appropriate Sodium Heparin tubes.
What is the cost of the FISH - Monosomy 7 / del(7q31) test at DNA Labs India?
The cost of the FISH - Monosomy 7 / del(7q31) test at DNA Labs India is INR 6000. This price includes home sample collection, laboratory analysis, and digital report delivery. A special discounted price of INR 6000 is available across India for online bookings.
How accurate is the FISH test for detecting Monosomy 7 and del(7q31)?
FISH is a highly sensitive and specific technique for detecting targeted chromosomal abnormalities. It can identify monosomy 7 and del(7q31) in interphase nuclei with high accuracy, often detecting abnormalities that may be missed by conventional karyotyping. However, FISH has certain limitations—it cannot detect abnormalities outside the targeted region and may miss very low-level mosaicism (below approximately 3–5% abnormal cells). Results should always be correlated with clinical findings and other laboratory data by a qualified hematologist or oncologist.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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