PGT M - 1 Variant - 1 Embryo Test: Booking, Price, and Results
About PGT M - 1 Variant - 1 Embryo Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | PGT-M, Preimplantation Genetic Testing for Monogenic Disorders, Single Gene Embryo Testing, PGD (Preimplantation Genetic Diagnosis) |
| Sample Type | Embryo biopsy (Day 5 blastocyst cells collected during IVF procedure) |
| Fasting Required | No. The sample is collected from the embryo, not directly from the patient. |
| Report Time | 24 days |
| Recommended For | Couples where one or both partners carry a known single-gene (monogenic) disorder |
| Price | Starting at ₹18,000 |
What Is a PGT M - 1 Variant - 1 Embryo Test?
The PGT M - 1 Variant - 1 Embryo Test is a genetic test performed on a single embryo during an IVF (in vitro fertilisation) cycle. It checks whether the embryo carries a specific inherited gene mutation known to run in the family. Also called PGT-M (Preimplantation Genetic Testing for Monogenic Disorders), the test is performed before the embryo is transferred to the uterus. The sample used is a small group of cells taken from the outer layer of a Day 5 blastocyst embryo.
What Does a PGT M - 1 Variant - 1 Embryo Test Measure?
This test examines the embryo's DNA for a specific, pre-identified familial gene mutation. The following outcomes are assessed for each embryo tested.
| What Is Assessed | What It Means |
|---|---|
| Presence of a specific familial variant | Whether the embryo carries the mutation known to cause the inherited condition in the family |
| Carrier status | Whether the embryo has one or two copies of the mutation (relevant for recessive conditions) |
| Haplotype analysis | A technique that traces the pattern of DNA around the mutation to improve detection accuracy |
Why Is a PGT M - 1 Variant - 1 Embryo Test Done?
The PGT M - 1 Variant - 1 Embryo Test procedure helps couples who are at a known genetic risk choose embryos that are unaffected before a pregnancy begins. Here is a closer look at the reasons a doctor may recommend it.
Common Symptoms That May Require This Test
This test is not ordered based on symptoms. It is recommended based on a couple's reproductive and genetic history. The following situations typically lead to a referral:
- One or both parents are confirmed carriers of a single-gene disorder
- A previous child was born with or affected by a genetic condition
- A previous pregnancy was terminated due to a genetic diagnosis
- Family history of a hereditary condition such as thalassaemia or cystic fibrosis
- Belonging to a population group with a high carrier rate for a specific condition
- Known hereditary cancer syndrome in the family (for example, BRCA1/2 mutations)
- A genetic counsellor has identified a specific pathogenic variant that can be tested
Conditions This Test Can Help Detect
The test is designed for any single-gene disorder where the familial mutation has been clearly identified. Conditions commonly tested include the following:
- Beta-thalassaemia and other haemoglobinopathies
- Cystic fibrosis
- Sickle cell anaemia
- Duchenne muscular dystrophy
- Huntington's disease
- Haemophilia A and B
- Spinal muscular atrophy (SMA)
- Fragile X syndrome
- BRCA1/2-related hereditary breast and ovarian cancer
- Tay-Sachs disease
How to Prepare and What to Expect
Preparation for the PGT M - 1 Variant - 1 Embryo Test begins well before the IVF cycle. Understanding each step helps couples plan appropriately.
Do You Need to Fast?
No fasting is required. The test sample is an embryo biopsy, not a blood or urine sample from the patient. Fasting is not relevant to this test.
Practical Tips Before Your Test
Good preparation before starting the process helps ensure the test runs smoothly. Keep the following points in mind:
- Attend a genetic counselling session before beginning any testing
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry a duly filled Test Request Form (TRF) and biopsy worksheet on the day of sample submission
- Ensure a signed consent form is ready before the biopsy procedure
- Provide DNA samples from both parents, and if required, from additional family members, during the custom probe development phase
- Confirm that the specific familial mutation has already been identified through prior molecular testing
Step-by-Step Procedure
- The genetics laboratory receives DNA samples from both partners and any required family members to design a custom genetic test specific to the family's mutation.
- The couple undergoes IVF treatment. Eggs are retrieved and fertilised using intracytoplasmic sperm injection (ICSI), which is the preferred fertilisation method for PGT-M.
- Fertilised eggs are cultured in the laboratory until they reach the blastocyst stage, typically on Day 5 or Day 6.
- A trained embryologist performs a trophectoderm biopsy, carefully removing 5 to 6 cells from the outer layer of the blastocyst. These cells form the placenta, and their removal does not affect the embryo's development.
- The biopsied cells are placed in a PGT Collection Kit and stored on dry ice at -20°C for transport to the testing laboratory.
- The embryo is frozen while the genetic test is carried out. Results are typically available within 24 days, after which unaffected embryos can be considered for transfer.
Factors That Can Affect Accuracy
Several factors may influence the reliability of test results. Your genetic counsellor can explain these in more detail:
- Poor quality or insufficient cells in the biopsy sample
- Allele drop-out, a technical occurrence where one copy of a gene is not detected during DNA amplification
- Embryo mosaicism, where different cells within the same embryo carry different genetic information
- Contamination of the sample with maternal DNA
- Incomplete or inaccurate identification of the familial mutation before testing begins
Understanding Your PGT M - 1 Variant - 1 Embryo Test Results
Results from the PGT M - 1 Variant - 1 Embryo Test are reported per embryo tested. A doctor and genetic counsellor will review the findings together with the couple.
| Result Classification | Meaning |
|---|---|
| Unaffected / Non-carrier | The embryo does not carry the disease-causing mutation; generally suitable for transfer |
| Carrier (recessive conditions) | The embryo carries one copy of the mutation but will not be affected by the disease; it may be suitable for transfer |
| Affected | The embryo carries the disease-causing mutation(s); not recommended for transfer |
| Inconclusive / No result | Sufficient genetic data could not be reliably obtained, or a technical limitation prevented a definitive result; 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 genetic test results cannot be changed, couples can take steps to support overall reproductive well-being during the IVF process:
- Maintain a balanced diet and healthy body weight, as these support embryo quality during IVF
- Avoid smoking and limit alcohol consumption during the treatment period
- Attend all scheduled follow-up appointments with your fertility specialist and genetic counsellor
Lupin Diagnostics PGT M - 1 Variant - 1 Embryo Test Price
The PGT M - 1 Variant - 1 Embryo Test cost starts at ₹18,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available. The embryo biopsy must be performed by a trained embryologist in an accredited IVF laboratory setting.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 18000 |
| CHENNAI | 18000 |
| HYDERABAD | 18000 |
| KOLKATA | 18000 |
| NAVI MUMBAI | 18000 |
| PUNE | 18000 |
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.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
PGT-M (Preimplantation Genetic Testing for Monogenic Disorders) checks for a specific inherited gene mutation known in the family. PGT-A checks for an abnormal number of chromosomes. Both tests are performed on embryos during IVF, but they answer different genetic questions.
Couples where one or both partners are confirmed carriers of a specific genetic mutation are the primary candidates. It is also considered when a couple has previously had a child affected by a genetic condition, or when a genetic counsellor has identified a relevant familial variant.
The initial phase of designing the custom genetic test (probe development) takes approximately 3 to 8 weeks. Once the IVF cycle is complete and the embryo biopsy is submitted, results from Lupin Diagnostics are delivered within 24 days.
The test uses Next Generation Sequencing (NGS) and is considered highly accurate for detecting the specific familial variant it is designed to identify. Prenatal confirmation testing, such as CVS or amniocentesis, is generally recommended to verify results once pregnancy is established.
You will need a duly filled Test Request Form (TRF), a biopsy worksheet, a signed consent form, and a detailed clinical history, along with relevant past reports. These must accompany the sample at the time of submission.
If no unaffected embryos are available from the current IVF cycle, couples may need to complete another cycle to generate additional embryos for testing. Your fertility specialist and genetic counsellor will guide you through the available options.
No. An embryo biopsy must be carried out by a trained embryologist inside an IVF laboratory. This procedure cannot be performed at home and requires specialised equipment and expertise.
PGT M - 1 Variant - 1 Embryo Test: Booking, Price, and Results
