PGT M - 1 Variant - 4 Embryos Test
About PGT M - 1 Variant - 4 Embryos Test
| Field | Value |
|---|---|
| Also Known As | PGT-M, Preimplantation Genetic Testing for Monogenic Disorders, Single Gene PGT, PGD (older terminology) |
| Sample Type | Embryo biopsy (Day 5 blastocyst, trophectoderm cells) |
| Fasting Required | Not applicable — the test is performed on embryo cells, not on a patient's blood or urine |
| Report Time | 24 days |
| Recommended For | Couples undergoing IVF who carry or are affected by a known single-gene disorder |
| Price | Starting at ₹57,500 |
What Is a PGT M - 1 Variant - 4 Embryos Test?
The PGT M - 1 Variant - 4 Embryos Test is a specialised genetic test performed on embryos created through in vitro fertilisation (IVF). It checks whether each embryo has inherited a specific disease-causing gene variant known to run in the family. Also called PGT-M or Preimplantation Genetic Testing for Monogenic Disorders, this test analyses cells from up to four embryos in a single cycle. The sample is a small group of cells carefully removed from a day 5 blastocyst-stage embryo.
What Does a PGT M - 1 Variant - 4 Embryos Test Measure?
This test analyses the DNA of biopsied embryo cells to determine whether each embryo has inherited the family's known genetic variant. The following outcomes are assessed for each embryo.
| Finding | What It Means |
|---|---|
| Unaffected / Non-carrier | The embryo has not inherited the disease-causing variant being tested |
| Carrier (recessive conditions) | The embryo carries one copy of a recessive disease-causing variant but is not expected to develop the disorder |
| Affected | The embryo has inherited the disease-associated variant(s) in a pattern predicted to cause the condition being tested |
| Inconclusive | A reliable genetic result could not be obtained due to technical or biological limitations |
Why Is a PGT M - 1 Variant - 4 Embryos Test Done?
Couples who have a known genetic disorder in the family may wish to prevent passing it on to their child. The PGT M - 1 Variant - 4 Embryos Test allows doctors to identify which embryos are unaffected before transfer to the uterus.
Common Symptoms That May Require This Test
This test is not triggered by symptoms in the usual sense. Instead, it is recommended based on a couple's reproductive and genetic history. The following situations commonly lead to a referral.
- Known carrier status in one or both partners for a single-gene disorder
- A previous child born with a hereditary genetic condition
- A personal or family history of a serious inheritable disorder
- A past pregnancy affected by a known monogenic (single-gene) condition
- Consanguineous marriage (marriage between closely related individuals) with elevated genetic risk
- Population-specific risk factors, such as beta thalassaemia carrier status, which is common in India
- A genetic counsellor's recommendation following mutation identification
Conditions This Test Can Help Detect
The test can be customised to check for a specific inherited genetic condition known to be present in a family. Some of the most commonly tested conditions include the following.
- Beta thalassaemia and sickle cell anaemia
- Haemophilia A and B
- Duchenne muscular dystrophy
- Cystic fibrosis
- Huntington's disease
- Spinal muscular atrophy (SMA)
- Fragile X syndrome
- Hereditary cancer syndromes (BRCA1 and BRCA2)
- Phenylketonuria (PKU)
- Tay-Sachs disease
How to Prepare and What to Expect
The PGT M - 1 Variant - 4 Embryos Test procedure does not involve any direct patient sample collection in the conventional sense. Preparation focuses on completing the necessary genetic groundwork well before the IVF cycle begins.
Do You Need to Fast?
No fasting is required. The test is performed on embryo cells, not on a sample from the patient's body, so dietary restrictions do not apply.
Practical Tips Before Your Test
The steps below help ensure the test can proceed smoothly and on schedule.
- Attend genetic counselling sessions before starting the IVF cycle
- Bring a detailed clinical history, including your symptoms, previous test results, and family history
- Submit the fully completed Test Request Form (TRF), biopsy worksheet, and signed consent form as instructed by your clinic
- Provide DNA samples from both partners and, where required, from other family members (such as an affected sibling or parent). These are needed to design a test specific to your family's mutation
- Allow adequate time for the probe development phase, which typically takes several weeks before the IVF cycle can begin
Step-by-Step Procedure
- Eggs are fertilised in the laboratory, and the resulting embryos are cultured for five to six days until they reach the blastocyst stage.
- A trained embryologist uses a laser to make a small opening in the outer shell of the blastocyst (zona pellucida).
- Five to six trophectoderm cells, the cells that form the pre-placenta, are gently removed. The inner cell mass, which becomes the baby, is not disturbed.
- The biopsied cells are placed in the PGT collection kit and transported on dry ice (-20°C) to the testing laboratory.
- All embryos are immediately frozen (cryopreserved) while results are awaited, to keep them viable for future use.
- The laboratory analyses the DNA using Next Generation Sequencing (NGS). Once results are ready, unaffected embryos are identified for transfer in a subsequent frozen embryo transfer cycle.
Factors That Can Affect Accuracy
- The quantity and quality of DNA extracted from the biopsied cells
- The complexity of the specific genetic variant being tested
- Whether sufficient informative DNA samples from family members were available during probe development
- Embryo quality and the precise developmental stage at the time of biopsy
- Mosaicism, a condition where different cells within the same embryo carry different genetic information
Understanding Your PGT M - 1 Variant - 4 Embryos Test Results
Results classify each of the four tested embryos into one of the categories below. A genetic counsellor and your IVF specialist will review these findings with you before any transfer decision is made.
| Result Category | Interpretation |
|---|---|
| Unaffected / Non-carrier | The embryo has not inherited the disease-causing variant being tested; generally suitable for transfer |
| Carrier (recessive conditions) | An embryo carries one copy of a recessive disease-causing variant but is not expected to develop the disorder; transfer may be considered following counselling |
| Affected | The embryo has inherited the disease-associated variant(s) in a pattern predicted to cause the condition; generally not selected for transfer |
| Inconclusive / No Result | A reliable genetic result could not be obtained; repeat testing, re-biopsy, or further specialist review 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.
How to Maintain Healthy Levels
While PGT-M results relate to embryo genetics rather than a patient's measurable levels, the steps below support the best possible outcomes from the IVF process.
- Maintain a balanced diet and a healthy body weight, as these support egg quality and embryo development
- Avoid smoking and limit alcohol intake during and before the IVF cycle
- Follow all medication and lifestyle instructions given by your fertility specialist throughout the stimulation and transfer phases
Lupin Diagnostics PGT M - 1 Variant - 4 Embryos Test Price
The PGT M - 1 Variant - 4 Embryos Test cost starts at ₹57,500 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre or an affiliated IVF facility; home collection is not available for this test. The table below shows indicative prices by city.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 57500 |
| CHENNAI | 57500 |
| HYDERABAD | 57500 |
| KOLKATA | 57500 |
| NAVI MUMBAI | 57500 |
| PUNE | 57500 |
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 submission and documentation.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
PGT-M tests embryos for a specific single-gene disorder that is already known to run in the family. PGT-A, by contrast, screens embryos for chromosome number abnormalities, such as extra or missing chromosomes. Both tests can be performed on cells from the same biopsy during an IVF cycle.
This test is suitable for couples where both partners carry the same autosomal recessive condition (such as beta thalassaemia or sickle cell anaemia), where one partner carries an X-linked condition (such as haemophilia), or where one partner has an autosomal dominant condition like Huntington's disease.
Yes. Embryo biopsy is a well-established procedure performed by trained embryologists within an IVF laboratory setting. The cells removed come from the trophectoderm layer, which forms the placenta, and the cells that develop into the baby are left untouched.
Before the IVF cycle begins, a probe development phase is needed. This typically takes several weeks after all required family DNA samples are received. Once embryo biopsy is performed, the PGT M - 1 Variant - 4 Embryos test report is delivered within 24 days.
If all tested embryos carry the disorder, couples may consider undergoing another IVF cycle to generate additional embryos for testing, or they may explore other options such as donor eggs or sperm.
The PGT-M test is highly accurate (greater than 99%) for the specific gene variant it is designed to detect. However, it does not screen for all possible genetic conditions or guarantee a successful pregnancy.
No. The PGT M - 1 Variant - 4 Embryos test is performed on cells biopsied from embryos inside an IVF laboratory. This process requires specialised equipment and trained personnel and cannot be carried out at home.
PGT M - 1 Variant - 4 Embryos Test
