PGT M - 1 Variant - 5 Embryos Test
About PGT M - 1 Variant - 5 Embryos Test
| Field | Value |
|---|---|
| Also Known As | Preimplantation Genetic Diagnosis (PGD), Preimplantation Genetic Testing for Monogenic Disorders, Single Gene PGT |
| Sample Type | Embryo biopsy (Day 5 blastocyst, trophectoderm cells) |
| Fasting Required | No. This test is performed on embryo cells, not a patient's blood or urine sample. |
| Report Time | 24 days |
| Recommended For | Couples undergoing IVF who carry or are affected by a known single-gene disorder; applicable to both males and females |
| Price | Starting at ₹72,000 |
What Is a PGT M - 1 Variant - 5 Embryos Test?
The PGT M - 1 Variant - 5 Embryos Test is a specialised genetic test performed during an IVF cycle. It checks embryos for a specific, pre-identified disease-causing gene variant before any embryo is transferred to the womb. The test is also known as Preimplantation Genetic Testing for Monogenic Disorders or Preimplantation Genetic Diagnosis (PGD).
A small number of cells are biopsied from each blastocyst-stage embryo. These cells are then analysed using next-generation sequencing (NGS). This particular test covers up to five embryos for one known genetic variant.
What Does a PGT M - 1 Variant - 5 Embryos Test Measure?
The PGT M - 1 Variant - 5 Embryos Test procedure analyses biopsied embryo cells at the molecular level. Each embryo is assessed for the following:
| What Is Assessed | What It Means |
|---|---|
| Disease-Causing Variant Status | Determines whether each of the five embryos has inherited the specific genetic variant being tested |
| Carrier Status (if applicable) | Identifies embryos carrying one copy of the variant in recessive disorders; carriers are typically not expected to be affected |
| Embryo Classification | Categorises each embryo as unaffected, carrier, affected, or inconclusive based on the test results |
| Haplotype Analysis | Uses genetic markers surrounding the gene to confirm inheritance patterns and improve test accuracy |
Why Is a PGT M - 1 Variant - 5 Embryos Test Done?
Couples who carry a hereditary genetic condition may benefit from this test during an IVF cycle. It helps identify which embryos are unaffected before transfer, reducing the chance of passing on a serious disorder to a child.
Common Symptoms That May Require This Test
This test is not ordered based on physical symptoms. It is recommended based on family and genetic history. The following situations commonly lead to a referral:
- One or both partners are confirmed carriers of a known single-gene disorder
- A previous child was born with a hereditary genetic condition
- A previous pregnancy was affected by a monogenic (single-gene) disorder
- A partner is affected by an autosomal dominant condition (e.g., Huntington's disease)
- A partner carries an X-linked condition such as haemophilia or Duchenne muscular dystrophy
- The couple has a strong family history of a hereditary genetic disorder
- Prenatal testing in a prior pregnancy revealed a serious genetic condition
Conditions This Test Can Help Detect
The PGT-M – 1 Variant – 5 Embryos Test can be customised to test for a specific inherited genetic condition known to be present in a family. Common ones include:
- Thalassaemia and sickle cell disease (hereditary haemoglobin disorders)
- Cystic fibrosis
- Huntington's disease
- Duchenne muscular dystrophy
- Haemophilia
- Spinal muscular atrophy (SMA)
- Fragile X syndrome
- Tay-Sachs disease
- Hereditary breast and ovarian cancer syndromes (BRCA1/BRCA2)
- Polycystic kidney disease
- Congenital adrenal hyperplasia (CAH)
- Myotonic dystrophy
How to Prepare and What to Expect
The preparation for this test begins well before embryo biopsy day. Several steps must be completed in advance, involving both partners and the IVF team.
Do You Need to Fast?
No fasting is required. The sample for this test is collected from embryo cells during an IVF procedure, not from a patient's blood or urine.
Practical Tips Before Your Test
The following steps are important before and during the PGT M - 1 Variant - 5 Embryos Test online booking and testing process:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry all past medical reports and molecular study results from family members when attending your consultation
- Ensure the disease-causing gene variant has been identified and confirmed before the testing process begins
- A duly completed Test Request Form (TRF), biopsy worksheet, and signed consent form must be submitted along with the sample
- Both partners may need to provide blood or DNA samples for test development (probe creation) before the IVF cycle begins
- Additional family members may be asked to provide DNA samples to assist with haplotype linkage analysis
- Discuss the full timeline with your IVF specialist, as test development alone can take several weeks
Step-by-Step Procedure
- The woman undergoes ovarian stimulation, egg retrieval, and fertilisation.
- Fertilised eggs are cultured in the laboratory for five to six days until they develop into blastocysts, each containing approximately 70 to 100 cells.
- An embryologist carefully removes five to seven cells from the trophectoderm (the outer cell layer that later forms the placenta, not the baby) of each blastocyst. This is the biopsy sample sent for testing.
- The biopsied embryos are immediately vitrified (frozen) to preserve them while the genetic analysis is completed.
- Biopsied cells are transported on dry ice to the laboratory, where DNA is amplified and analysed using NGS to detect the specific known mutation and confirm the inheritance pattern.
- Unaffected embryos are identified and can be thawed and transferred in a subsequent cycle.
Factors That Can Affect Accuracy
- The stage and quality of blastocyst development at the time of biopsy
- The experience and skill of the embryologist performing the biopsy
- The quantity and quality of DNA recovered from biopsied cells
- Allele dropout, where one copy of a gene fails to amplify during DNA analysis
- Availability of DNA from family members is needed for haplotype linkage analysis
- The day of biopsy (Day 5 or Day 6 blastocysts are preferred)
- Sample contamination during collection or transport
Understanding Your PGT M - 1 Variant - 5 Embryos Test Results
Results classify each tested embryo into one of the categories below. Your IVF physician and genetic counsellor will review these findings with you before any decisions about embryo transfer are made.
| Result | Meaning | Transfer Suitability |
|---|---|---|
| Unaffected / Normal | The embryo does not carry the disease-causing mutation | Generally suitable for transfer |
| Carrier (recessive conditions) | The embryo carries one copy of a recessive mutation but is not expected to be affected | May be suitable for transfer; requires counselling |
| Affected | The embryo has inherited the disease-associated variant(s) in a pattern predicted to cause the condition | Not recommended for transfer |
| Inconclusive / No Result | Insufficient DNA or technical failure during analysis | May require re-biopsy or exclusion from transfer |
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
Certain situations can make results more difficult to interpret. Your genetic counsellor will guide you through these possibilities if they arise.
Mosaicism occurs when an embryo contains a mixture of normal and abnormal cells. Mosaic results require careful genetic counselling, and decisions about transfer in such cases are complex. In rare and specific circumstances, certain mosaic embryos may be considered for transfer.
Variants of uncertain significance (VUS) are genetic changes where there is not yet enough scientific evidence to confirm whether they are harmful. PGT-M cannot reliably be performed for a VUS; a confirmed pathogenic (disease-causing) variant must be identified before testing can proceed.
It is worth noting that confirmatory prenatal testing, such as chorionic villus sampling (CVS) or amniocentesis, is typically recommended during any resulting pregnancy to confirm the PGT-M findings.
How to Maintain Healthy Levels
The following general steps support your overall well-being during an IVF and PGT-M cycle:
- Maintain a balanced diet rich in vegetables, whole grains, and lean protein to support your body through ovarian stimulation and embryo development
- Stay well hydrated and limit caffeine during your IVF cycle, as advised by your fertility specialist
- Attend all recommended genetic counselling sessions to ensure you fully understand the results and can make informed decisions about embryo transfer
Lupin Diagnostics PGT M - 1 Variant - 5 Embryos Test Price
The PGT M - 1 Variant - 5 Embryos Test cost starts at ₹72,000. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this specialised procedure.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 72000 |
| CHENNAI | 72000 |
| HYDERABAD | 72000 |
| KOLKATA | 72000 |
| NAVI MUMBAI | 72000 |
| PUNE | 72000 |
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 and submission.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
PGT M - 1 Variant - 5 Embryos testing screens each embryo for a specific, known gene mutation that runs in the family, such as thalassaemia or cystic fibrosis. PGT-A, by contrast, screens embryos for chromosomal number abnormalities such as Down syndrome. Both tests can sometimes be performed on the same biopsy sample.
Couples where both partners carry the same autosomal recessive condition, where one partner has an autosomal dominant condition, or where a partner carries an X-linked disorder are typically advised to consider this test. Families who have previously had an affected child may also benefit. A genetic counsellor can confirm whether this test is appropriate for your situation.
The test is highly accurate but not infallible. Accuracy typically exceeds 95 to 99%, depending on the condition and the technique used. Because no genetic test offers complete certainty, confirmatory prenatal testing via amniocentesis or CVS is generally advised during any resulting pregnancy.
Test development (creating the family-specific probe) typically takes three to eight weeks. Once embryo biopsies are submitted, results are usually available within approximately 24 days. The full process, from genetic work-up through to embryo transfer, can take six to twelve weeks in total.
The biopsy removes cells from the trophectoderm, the outer cell layer that forms the placenta, not the cells that develop into the baby. When performed by a skilled embryologist, this procedure does not significantly affect embryo development. Embryos are frozen immediately after biopsy to preserve their quality during testing.
If all five embryos test as affected or inconclusive, the couple may need to undergo a further IVF cycle to obtain additional embryos. A genetic counsellor will discuss all available options with you, which may include using donor gametes or exploring other family-building paths.
No. The PGT M - 1 Variant - 5 Embryos Test screens only for the one specific, pre-confirmed disease-causing variant identified in the family. A confirmed pathogenic variant must exist before testing can begin. It does not screen for all possible genetic disorders simultaneously or for variants of uncertain significance.
PGT M - 1 Variant - 5 Embryos Test
