PGT M - 2 Variants - 1 Embryo Test
About PGT M - 2 Variants - 1 Embryo Test
| Field | Value |
|---|---|
| Also Known As | PGT-M, Preimplantation Genetic Testing for Monogenic Disorders, Preimplantation Genetic Diagnosis (PGD) - Two Variants, Single Gene Disorder Testing |
| Sample Type | Embryo biopsy cells (trophectoderm cells from a Day 5 blastocyst) |
| Fasting Required | No |
| Report Time | 24 days |
| Recommended For | Couples undergoing IVF who carry two known pathogenic gene variants for a monogenic (single-gene) disorder |
| Price | Starting at ₹22,000 |
What Is a PGT M - 2 Variants - 1 Embryo Test?
The PGT M - 2 Variants - 1 Embryo Test is a specialised genetic test performed on an embryo created through IVF (in vitro fertilisation) before it is transferred to the uterus. It checks a single embryo for two specific, known disease-causing genetic mutations (variants). Also known as Preimplantation Genetic Testing for Monogenic Disorders, this test helps couples who carry inherited genetic conditions select embryos that are free from those conditions. The sample used is a small group of cells taken from the outer layer of the embryo on Day 5 of development.
What Does a PGT M - 2 Variants - 1 Embryo Test Measure?
This test analyses the DNA of a biopsied embryo to check for the presence or absence of two specific inherited mutations. The following parameters are assessed:
| Parameter | Possible Results | What It Means |
|---|---|---|
| Mutation Status – Variant 1 | Unaffected / Carrier / Affected | Whether the embryo has inherited the first disease-causing variant being tested |
| Mutation Status – Variant 2 | Unaffected / Carrier / Affected | Whether the embryo has inherited the second disease-causing variant being tested |
| Overall Embryo Status | Unaffected / Carrier / Affected / Inconclusive | Combined genetic assessment based on the variants tested |
Why Is a PGT M - 2 Variants - 1 Embryo Test Done?
This test is recommended for couples at risk of passing on a known inherited genetic disorder to their child. The decision to undergo PGT-M testing is usually guided by genetic counselling.
Common Symptoms That May Require This Test
This test is not ordered based on symptoms. Instead, it is recommended based on a couple's genetic history. The following situations commonly lead to a referral:
- Both partners are carriers of the same autosomal recessive condition (e.g., beta-thalassaemia, cystic fibrosis, or sickle cell anaemia)
- One or both partners have an autosomal dominant condition, such as Huntington's disease
- A carrier of an X-linked condition, such as Duchenne muscular dystrophy
- A previous child or pregnancy affected by a known genetic disorder
- Known mutations in hereditary cancer genes, such as BRCA1 or BRCA2
- Family history of a confirmed inherited single-gene disorder
- Carrier of compound heterozygous mutations requiring two-variant analysis
Conditions This Test Can Help Detect
The PGT M - 2 Variants - 1 Embryo Test procedure is designed to identify the following types of conditions in embryos:
- Beta-thalassaemia major (when both parental mutations are known)
- Compound heterozygous conditions (two different mutations in the same gene)
- Sickle cell anaemia
- Cystic fibrosis
- Haemophilia
- Duchenne muscular dystrophy
- Huntington's disease
- Lysosomal storage disorders and other rare inherited conditions
How to Prepare and What to Expect
Preparing for the PGT M - 2 Variants - 1 Embryo Test involves several steps that begin well before the IVF cycle itself.
Do You Need to Fast?
No fasting is required at any stage of this test. There are no dietary restrictions for either the embryo biopsy procedure or the parental sample collection done during pre-test workup.
Practical Tips Before Your Test
Preparation is essential for this test. Keep the following in mind:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Ensure both confirmed genetic reports showing the two pathogenic variants are available before starting the process
- Coordinate with your fertility clinic and the genetics laboratory well in advance of your IVF cycle, as test development alone can take 3 to 12 weeks
- Family members (such as an affected sibling or parent) may need to provide DNA samples for linkage analysis during the workup phase
- Attend genetic counselling to ensure both variants are clearly documented, and the test is accurately designed
- A duly filled Test Request Form (TRF), biopsy worksheet, and signed consent form are mandatory and must be submitted with the sample
Step-by-Step Procedure
- Your fertility clinic performs an IVF cycle. Eggs are retrieved and fertilised with sperm using ICSI (intracytoplasmic sperm injection, where a single sperm is injected into each egg.
- The fertilised embryos are cultured in the laboratory until Day 5 (the blastocyst stage). A preferred Day 5 or Day 6 biopsy is performed at this stage.
- Five to six cells are carefully removed from the trophectoderm, the outer layer of the embryo that would later form the placenta. The inner cell mass, which develops into the baby, is not touched.
- After biopsy, the embryo is immediately vitrified (rapidly frozen) and stored, while the cells are sent to the genetics laboratory.
- The biopsied cells are analysed using NGS (next-generation sequencing), a method that reads the embryo's DNA in detail, to check for the two specified mutations.
- Results are reviewed by a specialist, and unaffected embryos are identified for potential frozen embryo transfer (FET) in a subsequent cycle.
Factors That Can Affect Accuracy
No test is entirely without limitation. The following factors can affect the accuracy of this test:
- Allele drop-out (ADO), where one copy of a gene fails to amplify during DNA analysis
- Poor quality or insufficient cells obtained during the embryo biopsy
- Incorrect or incomplete identification of genetic markers during the pre-test workup phase
- Sample contamination in the laboratory
Understanding Your PGT M - 2 Variants - 1 Embryo Test Results
Results from this test classify each embryo based on its genetic status for both variants. Your fertility specialist and genetic counsellor will review the findings with you in detail.
| Parameter | Result | Interpretation |
|---|---|---|
| Mutation Status – Variant 1 | Unaffected | The embryo has not inherited this variant |
| Mutation Status – Variant 1 | Carrier | An embryo carries one copy of this variant (for recessive conditions) |
| Mutation Status – Variant 1 | Affected | The embryo has inherited the disease-associated variant(s) relevant to the condition being tested |
| Mutation Status – Variant 2 | Unaffected | The embryo has not inherited this variant |
| Mutation Status – Variant 2 | Carrier | An embryo carries one copy of this variant (for recessive conditions) |
| Mutation Status – Variant 2 | Affected | The embryo has inherited the disease-associated variant(s) relevant to the condition being tested |
| Overall Embryo Status | Unaffected | No disease-causing variant combination detected for the tested condition |
| Overall Embryo Status | Carrier | Carries a disease-causing variant but is not expected to be affected (for recessive conditions) |
| Overall Embryo Status | Affected | Genetic findings indicate the embryo is predicted to be affected by the tested condition |
| Overall Embryo Status | Inconclusive | The result could not be determined reliably due to technical or biological limitations |
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 results cannot be altered, the following steps support a positive IVF experience:
- Attend all recommended genetic counselling sessions before and after the test to fully understand the results
- Even after a successful PGT-M result, discuss whether confirmatory prenatal testing (such as amniocentesis or CVS) is appropriate for your situation
- Seek emotional support throughout the IVF and testing process, as this journey can be demanding for both partners
Lupin Diagnostics PGT M - 2 Variants - 1 Embryo Test Price
The PGT M - 2 Variants - 1 Embryo Test cost starts at ₹22,000 at Lupin Diagnostics. This test requires a visit to a Lupin Diagnostics centre; home collection is not available for this test. The table below shows indicative prices by city.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 22000 |
| CHENNAI | 22000 |
| HYDERABAD | 22000 |
| KOLKATA | 22000 |
| NAVI MUMBAI | 22000 |
| PUNE | 22000 |
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. Ensure all required documentation (TRF, biopsy worksheet, consent form, and clinical history) is ready before your visit.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Frequently Asked Questions
This means that a single embryo is tested for two specific known genetic mutations. This is typically needed when parents carry different mutations for the same condition, or when two distinct variants need to be checked in the embryo to determine its full genetic status.
The pre-test workup, which involves designing the family-specific genetic test, takes 3 to 12 weeks. After the embryo biopsy, results are available within approximately 24 days. The full process, including the IVF cycle, typically spans several months.
Yes, the biopsy removes cells only from the trophectoderm, the outer layer that forms the placenta. The inner cell mass, which develops into the baby, is left completely untouched. Published data on neonatal outcomes after trophectoderm biopsy have been reassuring.
No. The PGT M - 2 Variants - 1 Embryo Test checks only for the two specific mutations it is designed to detect. It does not screen for other genetic conditions, chromosomal issues, or any other health concerns. A normal result means the embryo is unaffected for the tested variants, not that it is free from all possible conditions.
The genetics laboratory designs a test unique to each family. Parental DNA samples are used to map informative genetic markers around the mutation sites, which allows the laboratory to accurately determine which version of the gene the embryo has inherited.
Yes, prenatal confirmation is recommended. Because single-cell genetic analysis carries a small risk of misdiagnosis due to technical limitations, specialists generally advise couples to consider confirmatory prenatal testing, such as amniocentesis or CVS (chorionic villus sampling), during the pregnancy.
This test is suitable for couples where both partners carry different pathogenic mutations (a situation known as compound heterozygosity), couples with two different inherited conditions in the family, or those where two distinct mutations in the same gene need to be simultaneously evaluated in the embryo.
PGT M - 2 Variants - 1 Embryo Test
