PGT M - 2 Variants - 2 Embryos Test
About PGT M - 2 Variants - 2 Embryos Test
| Field | Value |
|---|---|
| Also Known As | PGT-M, Preimplantation Genetic Testing for Monogenic Disorders, Preimplantation Genetic Diagnosis (PGD), Single-Gene PGT |
| Sample Type | Embryo biopsy (trophectoderm cells from Day 5 blastocyst-stage embryos) |
| Fasting Required | Not applicable, this test is performed on embryo cells, not a blood or urine sample |
| Report Time | 24 days |
| Recommended For | Couples undergoing IVF who carry or are affected by a known single-gene disorder |
| Price | Starting at ₹35,200 |
What Is a PGT M - 2 Variants - 2 Embryos Test?
The PGT M - 2 Variants - 2 Embryos Test is a specialised genetic test performed on embryos created through in vitro fertilisation (IVF). It screens two embryos for two specific known disease-causing genetic mutations before any embryo is transferred to the uterus. The test is also known as Preimplantation Genetic Testing for Monogenic Disorders or PGT-M. It is used by couples who are at risk of passing an inherited single-gene condition to their child.
What Does a PGT M - 2 Variants - 2 Embryos Test Measure?
This test analyses embryo cells for two specific genetic variants (mutations) identified in the family. Because two embryos are tested, the laboratory examines each embryo individually for both mutations. The results help determine which embryos, if any, are suitable for transfer.
The test reports on the following parameters:
| Parameter | Possible Findings | Type |
|---|---|---|
| Variant 1 Status (Embryo 1) | Unaffected / Carrier / Affected | Qualitative |
| Variant 2 Status (Embryo 1) | Unaffected / Carrier / Affected | Qualitative |
| Variant 1 Status (Embryo 2) | Unaffected / Carrier / Affected | Qualitative |
| Variant 2 Status (Embryo 2) | Unaffected / Carrier / Affected | Qualitative |
| Overall Embryo Classification | Unaffected / Carrier / Affected / Inconclusive | Qualitative |
Why Is a PGT M - 2 Variants - 2 Embryos Test Done?
This test is recommended when a couple undergoing IVF has a known risk of passing two separate inherited genetic conditions to their child. This may occur when both partners carry different conditions, or when two genetic disorders are present in the family history.
Common Symptoms That May Require This Test
This test is not ordered based on symptoms. Instead, it is indicated by specific family and genetic circumstances. Couples are typically referred for the PGT M - 2 Variants - 2 Embryos Test procedure in the following situations:
- Known carrier status for a single-gene disorder in one or both partners
- A previous pregnancy or a child affected by a genetic condition
- A family history of a serious inherited disorder
- Confirmed identification of two separate pathogenic gene variants in the family
- Both partners are carriers of the same autosomal recessive condition
Conditions This Test Can Help Detect
A genetic counsellor will determine which conditions are being tested based on the family's specific mutations. Common single-gene disorders for which this test may be used include:
- Thalassaemia and sickle cell anaemia
- Cystic fibrosis
- Huntington's disease
- Spinal muscular atrophy
- Duchenne muscular dystrophy
- Fragile X syndrome
- Haemophilia
- Tay-Sachs disease
- BRCA1/2-related hereditary cancer syndromes
How to Prepare and What to Expect
Because this test is performed on embryonic cells rather than on the patient directly, the preparation process differs significantly from a routine blood test.
Do You Need to Fast?
No fasting is required. This test is carried out on embryo cells obtained during an IVF cycle. Neither partner needs to fast at any stage of the PGT M - 2 Variants - 2 Embryos Test procedure.
Practical Tips Before Your Test
The following steps are important to complete before the embryo biopsy takes place:
- Attend genetic counselling sessions with a qualified genetic counsellor before the IVF cycle begins
- Provide DNA samples from both partners and, where possible, from an affected family member (known as the proband) to allow the laboratory to set up the test
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Submit all required paperwork in advance, including the duly filled Test Request Form (TRF), biopsy worksheet, and signed consent form
- Allow adequate time for initial test setup, as first-time cases require additional preparation before the embryo biopsy cycle begins
- Discuss your full medication history with your fertility specialist
Step-by-Step Procedure
- Embryos are created through standard IVF and allowed to develop in the laboratory until Day 5 or Day 6, when they reach the blastocyst stage.
- The embryologist performs a trophectoderm (TE) biopsy, and a small number of cells (typically 5 to 6) are carefully removed from the outer layer of the blastocyst using a fine laser-assisted technique. This outer layer forms the placenta, not the baby, so the biopsy does not harm the embryo's development.
- The biopsied cells from each embryo are placed into the PGT collection kit and stored on dry ice for transport to the laboratory.
- In the laboratory, the cells undergo whole genome amplification (WGA) followed by analysis using next-generation sequencing (NGS), the method used for this test.
- Each embryo is assessed for both genetic variants. The embryos themselves are vitrified (frozen) while the results are being processed.
- Results are reported within 24 days. Your fertility specialist and genetic counsellor will discuss the findings with you and advise on next steps.
Factors That Can Affect Accuracy
Several technical and biological factors may influence the test outcome:
- Quality and quantity of the embryo biopsy sample
- Allele dropout (ADO), where one copy of a gene fails to amplify during testing
- Embryo mosaicism, where different cells in the same embryo carry different genetic information
- Availability of reference DNA from an affected family member
- DNA contamination during sample handling
- Laboratory experience and sequencing technology used
Understanding Your PGT M - 2 Variants - 2 Embryos Results
Results from this test are qualitative rather than numerical. Each embryo is classified based on its genetic status for both variants tested. Your fertility specialist and genetic counsellor will explain what the findings mean for your specific situation.
| Result Category | Meaning | Transfer Suitability |
|---|---|---|
| Unaffected | The embryo has not inherited the disease-causing variant(s) | Generally suitable for transfer |
| Carrier | An embryo carries one copy of a recessive mutation but is not affected | May be suitable — discuss with your doctor |
| Affected | The embryo has inherited the disease-causing mutation(s) | Not recommended for transfer |
| Inconclusive | Testing did not yield a clear result | 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
Embryo mosaicism can affect the accuracy of the result. When different cells within the same embryo carry different genetic makeups, the biopsy sample may not fully represent the entire embryo, which can occasionally lead to inconclusive or inaccurate findings.
Technical factors such as allele dropout and DNA amplification failure can also produce uncertain results.
How to Maintain Healthy Levels
After a successful embryo transfer, the following steps support a healthy pregnancy:
- Confirm results with prenatal diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), once pregnancy is established, as this is recommended even after a successful PGT-M result
- Attend all scheduled prenatal care appointments
- Discuss any concerns about the genetic findings with your genetic counsellor and fertility specialist before proceeding
Lupin Diagnostics PGT M - 2 Variants - 2 Embryos Test Price
The PGT M - 2 Variants - 2 Embryos Test cost starts at ₹35,200 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre or partner IVF facility. Home collection is not available for this test, as the embryo biopsy must be performed in a specialised IVF laboratory. The table below shows indicative prices by city.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 35200 |
| CHENNAI | 35200 |
| HYDERABAD | 35200 |
| KOLKATA | 35200 |
| NAVI MUMBAI | 35200 |
| PUNE | 35200 |
Disclaimer: 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 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 (Preimplantation Genetic Testing for Monogenic Disorders) is a genetic test performed on embryos during an IVF cycle. It detects specific inherited single-gene mutations before an embryo is transferred to the uterus. Couples with a known risk of passing on a genetic condition use this test to improve the chances of having an unaffected child.
This version of the PGT M test screens two embryos, each tested for two specific known genetic mutations. It is used when both partners carry different inherited conditions, or when two separate genetic disorders exist within the family history that need to be checked.
A trained embryologist removes a small number of cells (around 5 to 6) from the outer layer of the blastocyst-stage embryo using a fine laser-assisted technique. This outer layer later forms the placenta, so removing these cells does not affect the embryo's ability to develop normally.
Results from the PGT M - 2 Variants - 2 Embryos Test are delivered within 24 days. First-time cases may take longer due to the additional test setup time required before the embryo biopsy cycle begins.
Yes. Even when an unaffected embryo has been selected and transferred, prenatal diagnostic testing, such as amniocentesis or chorionic villus sampling, is recommended to confirm the PGT-M findings once pregnancy is established.
PGT-M has known technical limitations. These include allele dropout (where one copy of a gene is missed during amplification), DNA contamination, and embryo mosaicism. These factors can occasionally affect the accuracy of results.
No. The PGT M - 2 Variants - 2 Embryos Test requires embryos produced through IVF. The embryo biopsy is performed in a specialised IVF laboratory by trained embryologists. This procedure cannot be carried out at home or at a standard collection centre.
PGT M - 2 Variants - 2 Embryos Test
