Biopsy and genetic Tests: Complete Guide with Parameters, Normal Range & Cost

Biopsy and genetic tests are highly advanced diagnostic techniques used to detect cancers, genetic disorders, and certain chronic conditions. They are usually recommended by doctors when blood, urine, and imaging tests fail to provide a clear diagnosis. Biopsy and genetic tests give information about cells, genes, and how the body is working, which helps doctors decide the best treatment.

1. Tissue Biopsy

A tissue biopsy is a type of biopsy and genetic test in which a doctor removes a small piece of tissue for microscopic examination. In this study doctors check for the presence of cancer cells and gene-level infections. It helps in confirming cancers, infections, and inflammatory conditions. Depending on the site and method, there are different types of biopsies:

Type of Biopsy	Common Sites	Purpose
Core Needle Biopsy	Liver, Kidney, Breast, Lymph Node	Detect tumors, infections, inflammation
Excisional Biopsy	Skin, Lymph Node	Remove & analyze entire lesion
Incisional Biopsy	Tumor masses	Sample part of lesion for diagnosis

• Preparation: Local or general anesthesia
• Report time: 3–7 days
• Cost: ₹2,000–₹2,000

2. FNAC (Fine Needle Aspiration Cytology)

FNAC is a rapid and minimally invasive test under the biopsy and genetic tests category. In which a very thin, hollow needle is inserted into the area where the sample is to be taken, and suction is applied to collect a small sample of cells. It is commonly used for thyroid, breast, and lymph node swellings.

• Purpose: Detects infection, cysts, or cancer cells
• Report time: Same day – 3 days
• Cost: ₹1,000 – ₹2,500

3. Bone Marrow Aspiration & Biopsy

Bone marrow is a spongy tissue inside the bone that is responsible for making the blood cells. They are critical for diagnosing leukemia, lymphoma, anemia, and platelet disorders. This test is a part of advanced biopsy and genetic tests. In a bone marrow aspiration sample, it is a liquid from bone marrow, whereas in a bone marrow biopsy, the sample is a solid core of bone marrow tissue.

Parameter	Normal Findings
Cellular Composition	Balanced myeloid & erythroid cells
Megakaryocytes	Adequate number
Fibrosis	Absent

• Cost: ₹4,000 – ₹8,000

4. Pap Smear (Cervical Screening)

The Pap smear is an important screening test used to detect precancerous changes and cervical cancer in women. It is recommended for all sexually active women aged 21–65 years. It is a very effective test because it can detect cervical cancer early when it is highly treatable. This test is performed alongside other biopsy and genetic tests in comprehensive cancer detection programs.

• Normal Result: Negative for intraepithelial lesion or malignancy
• Frequency: Every 3 years
• Cost: ₹500 – ₹1,000

5. Genetic Testing

This test is a key part of biopsy and genetic tests. That studies our DNA, chromosomes, and genes to detect any type of mutation that may be harmful to our health.

Test Type	Purpose
DNA & Chromosome Analysis	Detects genetic syndromes like Down syndrome, Turner’s
BRCA1/2 Mutation Testing	Identifies breast & ovarian cancer risk
Carrier Screening	Checks if parents carry genetic mutations
Whole Exome/Genome Sequencing	Comprehensive genetic evaluation

• Report time: 2–4 weeks
• Cost: ₹5,000–₹50,000

6. Newborn Screening Panels

Newborn screening panels are the part of biopsy and genetic tests that are done some time after a baby’s birth to avoid serious but treatable conditions. The goal is to detect these conditions early, before symptoms appear, so treatment can start quickly and can prevent future health issues.

How It’s Done

Heart Screening—By measuring oxygen levels and detecting critical heart defects.
Blood Test—A few drops of blood are taken from the baby’s heel within 24–72 hours of birth.
Hearing Test—Light sounds are played into the baby’s ears to check hearing ability.

• Conditions Tested: PKU, Congenital Hypothyroidism, Sickle Cell Anemia, G6PD Deficiency
• Sample: Heel-prick blood spot
• Cost: ₹1,500 – ₹3,000

7. Drug Level Monitoring

This medical test is done when a drug is harmful in high doses and does not show any effect in low doses. This tells us how much of the drug is reaching the blood and whether that dosage is correct or not. This helps us to know if the medicine is working properly or not, and we can also avoid toxicity and find the right dosage through its practice and spirituality.

Drug	Therapeutic Range
Lithium	0.6 – 1.2 mEq/L
Phenytoin	10 – 20 µg/mL
Valproic Acid	10–20 µg/mL

• Cost: ₹800 – ₹2,000 per drug

8. Flow Cytometry

Flow cytometry is a very modern and powerful test used to analyze cell types in blood, bone marrow, or tissue. It is essential in diagnosing leukemias, lymphomas, and immune disorders. This test is very accurate and can analyze thousands of cells every second. A high-tech analysis is often paired with biopsy and genetic tests. It can detect HIV/AIDS and blood cancer.

• Cost: ₹3,000 – ₹7,000

9. Immunofixation Electrophoresis

This test, when combined with biopsy and genetic tests, identifies abnormal antibodies (proteins) in the blood or urine and is commonly used to detect multiple myeloma and plasma cell disorder.

• Report time: 3–5 days • Cost: ₹2,500 – ₹5,000

Key Points

• Biopsy and genetic tests are not first-line diagnostic tests.
• Most biopsy and genetic tests are only recommended by a specialist.
• Tissue biopsy and genetic tests need advanced labs.
• Results must be interpreted by a pathologist, oncologist, or geneticist.
• Early detection through biopsy and genetic tests can significantly improve treatment outcomes.

💡💡💡 Looking for some more medical tests? You can also read our Medical Tests—Complete A to Z Guide (With 100+ Tests