PGT M - 2 Variants - 4 Embryos Test: Booking, Price, and Results
About PGT M - 2 Variants - 4 Embryos Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | PGT-M, Preimplantation Genetic Testing for Monogenic Disorders, PGD (former name), Single Gene Testing |
| Sample Type | Embryo biopsy (Day 5 blastocyst cells, collected using a PGT collection kit) |
| Fasting Required | No — this test is performed on embryo cells, not on a patient's blood or urine sample |
| Report Time | 24 days |
| Recommended For | Couples undergoing IVF where one or both partners carry a known single-gene disorder variant |
| Price | Starting at ₹90,000 |
What Is a PGT M - 2 Variants - 4 Embryos Test?
The PGT M - 2 Variants - 4 Embryos Test is a specialised genetic test performed on embryos created through in vitro fertilisation (IVF). It screens four embryos for two specific inherited gene variants before any embryo is transferred to the uterus. The test is also known as PGT-M (Preimplantation Genetic Testing for Monogenic Disorders) or, by its older name, PGD (Preimplantation Genetic Diagnosis). It is prescribed to couples who carry known single-gene conditions and wish to reduce the risk of passing them on to their child.
What Does a PGT M - 2 Variants - 4 Embryos Test Measure?
This test analyses cells taken from each embryo to identify whether the embryo has inherited one or both disease-causing gene variants from its parents. Testing is performed using Next Generation Sequencing (NGS) technology, which provides a detailed read of the embryo's genetic material.
The following aspects are assessed for each of the four embryos:
- Presence or absence of the two specific pathogenic (disease-causing) gene variants identified in the parents
- Haplotype linkage analysis, which tracks which parental chromosomes were passed to the embryo
- Overall genetic status of each embryo, whether it is unaffected, a carrier, affected, or inconclusive
Why Is a PGT M - 2 Variants - 4 Embryos Test Done?
Couples who carry inherited conditions often turn to PGT-M testing to make informed decisions about which embryos to transfer during an IVF cycle. The following sections explain the common reasons a doctor may recommend this test.
Common Symptoms That May Require This Test
This test is not ordered based on symptoms but on specific clinical and family history factors. A doctor may recommend a PGT M - 2 Variants - 4 Embryos Test in these situations:
- Known carrier status for a single-gene disorder in one or both partners
- A previous child born with an inherited genetic condition
- A history of affected pregnancies or pregnancy losses linked to a genetic cause
- A family history of a known hereditary disease
- Consanguineous marriage (marriage between closely related individuals), which increases the risk of passing on recessive conditions
- Desire to prevent transmission of a hereditary condition to offspring
Conditions This Test Can Help Detect
The PGT-M procedure can screen embryos for a wide range of inherited single-gene conditions. Common examples include:
- Beta-thalassaemia (a blood disorder causing reduced haemoglobin production)
- Sickle cell disease (a disorder affecting the shape of red blood cells)
- Cystic fibrosis (a condition affecting the lungs and digestive system)
- Huntington's disease (a progressive neurological disorder)
- Duchenne muscular dystrophy (a muscle-wasting condition)
- Haemophilia A and B (blood clotting disorders)
- Fragile X syndrome (a common cause of intellectual disability)
- Spinal muscular atrophy (a neuromuscular condition)
- BRCA1/2-related hereditary breast and ovarian cancer syndromes
Over 1,000 genetic diseases are currently recognised as suitable for PGT-M testing.
How to Prepare and What to Expect
The PGT M - 2 Variants - 4 Embryos Test procedure involves several stages that begin well before the IVF cycle itself.
Do You Need to Fast?
No fasting is required. This test is carried out on embryo cells, not on a blood or urine sample from the patient.
Practical Tips Before Your Test
Preparation for this test takes place over weeks or months. The following steps are important:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry all genetic test reports confirming the specific mutation(s) in both partners and, where available, an affected family member
- Ensure signed consent forms and a completed biopsy worksheet are ready before the cycle begins
- A duly filled Test Request Form (TRF) is required at the time of sample submission
- The probe design and test validation phase (called workup) can take 2 to 4 months before the IVF cycle begins; plan your timeline accordingly
- Genetic counselling is strongly recommended for all couples before proceeding with PGT-M
Step-by-Step Procedure
The PGT M - 2 Variants - 4 Embryos Test involves the following stages:
- The genetics laboratory collects DNA samples from both partners and, where needed, from an affected family member, then designs a custom test probe specific to your family's variants.
- IVF is performed, and the resulting embryos are cultured in the laboratory until they reach the blastocyst stage (Day 5 or Day 6).
- A trophectoderm biopsy is performed on each embryo. Five to six cells are carefully removed from the outer layer of the blastocyst (the part that forms the placenta), leaving the inner cell mass undisturbed.
- The biopsied cells are placed in a PGT collection kit and transported to the testing laboratory on dry ice at -20°C to preserve sample quality.
- The embryos are frozen while laboratory analysis is carried out using NGS technology.
- Results are released to the IVF centre, and a suitable embryo is selected for transfer based on the findings.
Factors That Can Affect Accuracy
The following factors may influence the quality or outcome of the test:
- Quality of DNA provided by family members for probe validation
- Availability of an affected relative's DNA sample for reference
- Embryo quality at the time of biopsy
- Technical expertise of the embryology laboratory performing the biopsy
- Mosaicism in the embryo (when different cells within the same embryo carry different genetic information), which can produce uncertain results
Understanding Your PGT M - 2 Variants - 4 Embryos Test Results
Results from this test are reported per embryo. A genetic counsellor and your fertility specialist will review the findings with you and explain what each embryo's status means for your treatment plan.
| Embryo Status | Interpretation |
|---|---|
| Unaffected | Does not carry the disease-causing variant(s); suitable for transfer |
| Carrier | Carries one copy of the variant (applies to recessive conditions); may be suitable for transfer |
| Affected | Carries the disease-causing variant(s); not recommended for transfer |
| Inconclusive / No result | Insufficient DNA or technical issue; re-biopsy may be considered |
Disclaimer: 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
Mosaicism (when an embryo contains a mix of genetically different cells) can make interpretation of results more complex and may require additional counselling.
In rare cases, test development may not succeed if the genetic variant is difficult to amplify or if insufficient linked markers are available for analysis.
How to Maintain Healthy Levels
The following general steps can support the best possible outcomes during this process:
- Work closely with a genetic counsellor throughout the IVF and testing journey to fully understand what the results mean for your family
- Consider confirmatory prenatal testing, such as amniocentesis or chorionic villus sampling, once a pregnancy is established after embryo transfer
- Keep open communication with both your fertility team and genetics team at every stage of the process
Lupin Diagnostics PGT M - 2 Variants - 4 Embryos Test Price
The PGT M - 2 Variants - 4 Embryos Test cost starts at ₹90,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 90000 |
| CHENNAI | 90000 |
| HYDERABAD | 90000 |
| KOLKATA | 90000 |
| NAVI MUMBAI | 90000 |
| PUNE | 90000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
The following steps explain how to complete the PGT M - 2 Variants - 4 Embryos Test online booking process:
- 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
PGT-M screens embryos for a specific inherited single-gene disorder carried by one or both parents. PGT-A, on the other hand, checks for abnormalities in the total number of chromosomes. The two tests can also be performed together to improve the chances of selecting a healthy embryo for transfer.
The initial probe design and test validation phase can take 2 to 4 months before the IVF cycle begins. Once embryo biopsy samples are received, the report is delivered within 24 days. Couples should plan their IVF timeline with this in mind.
The laboratory needs DNA from an affected family member (or previous affected pregnancy) to design and validate the custom test probe. Without this reference DNA, the probe cannot be accurately built, which may delay or prevent test development.
Trophectoderm biopsy removes cells only from the outer layer of the blastocyst, leaving the inner cell mass (which develops into the baby) untouched. Published data on infant outcomes after trophectoderm biopsy have been reassuring.
The PGT-M procedure identifies affected and unaffected embryos with over 99% accuracy for the specific variants tested. However, no test can screen for every possible genetic or health condition. Confirmatory prenatal testing during pregnancy is recommended regardless of results.
If no suitable embryo is available for transfer, your fertility and genetics team will discuss the available options. These may include proceeding with another IVF cycle and repeating the PGT M - 2 Variants - 4 Embryos Test, considering donor eggs or sperm, or exploring other family-building pathways.
You will need to bring a duly filled TRF (Test Request Form), a completed biopsy worksheet, a signed consent form, and a detailed clinical history, including past genetic test reports.
PGT M - 2 Variants - 4 Embryos Test: Booking, Price, and Results
