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NGS Couple Carrier Screening + DMD + SMA Test: Booking, Price, and Results
About NGS Couple Carrier Screening + DMD + SMA Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | NGS Couple Carrier Screen, Expanded Carrier Screening with DMD + SMA, Preconception Genetic Screening, Couple Genetic Compatibility Test |
| Sample Type | Peripheral blood (collected in an EDTA tube, a blood collection tube with an anticoagulant to prevent clotting) |
| Fasting Required | No fasting required |
| Report Time | 40 days |
| Recommended For | Couples planning pregnancy or undergoing IVF; consanguineous couples; individuals with a family history of genetic disorders; males and females of reproductive age |
| Price | Starting at ₹72,000 |
What Is an NGS Couple Carrier Screening + DMD + SMA Test?
The NGS Couple Carrier Screening + DMD + SMA test is a genetic blood test that checks whether one or both partners carry gene variants linked to inherited conditions. It uses Next Generation Sequencing (NGS), a technology that reads many genes at once, alongside specific methods to detect changes in the DMD and SMN1 genes. The test is typically recommended before or during pregnancy planning.
It is also known as Expanded Carrier Screening with DMD + SMA or a Couple Genetic Compatibility Test.
What Does an NGS Couple Carrier Screening + DMD + SMA Test Measure?
This panel analyses multiple genes in both partners simultaneously. The table below outlines the key areas examined.
| What Is Tested | What It Checks |
|---|---|
| SMN1 gene copy number | Detects deletions in the gene linked to Spinal Muscular Atrophy (SMA), a progressive muscle-weakening condition |
| DMD gene mutations | Identifies deletions and duplications in the gene responsible for Duchenne Muscular Dystrophy |
| Multiple gene variants | Screens for variants across a large panel of genes linked to autosomal recessive and X-linked recessive disorders |
| Carrier status (both partners) | Determines whether one or both partners carry gene variants that could be passed on to a child |
Why Is an NGS Couple Carrier Screening + DMD + SMA Test Done?
This test is ordered during preconception planning or early pregnancy, not because of symptoms. Carriers are usually healthy and show no signs of illness themselves.
Common Reasons for Recommending This Test
The following situations commonly prompt a doctor to recommend this screening:
- Planning a pregnancy and wanting to understand genetic risk before conception
- Undergoing IVF or assisted reproductive treatment
- A previous child was diagnosed with a genetic disorder
- A close family member has been diagnosed with an inherited condition such as SMA or DMD
- Consanguineous couples (partners who are related by blood)
- Belonging to a population group with a known higher carrier frequency for certain conditions
Conditions This Test Can Help Detect
This NGS couple carrier screening panel covers a wide range of inherited disorders. Conditions it can help identify include:
- Spinal Muscular Atrophy (SMA): a neuromuscular condition caused by degeneration of motor neurons in the spinal cord, leading to muscle weakness
- Duchenne Muscular Dystrophy (DMD): a progressive condition affecting muscles used for movement, breathing, and heart function
- Beta Thalassaemia and Sickle Cell Anaemia
- Cystic Fibrosis
- Congenital Adrenal Hyperplasia
- Haemophilia A and B
- G6PD Deficiency
- Hunter Syndrome and X-linked Intellectual Disability
NGS Couple Carrier Screening + DMD + SMA Test During Pregnancy
Leading medical bodies recommend offering carrier screening to all individuals who are pregnant or planning a pregnancy. The NGS Couple Carrier Screening + DMD + SMA test can be performed before or during pregnancy to identify couples at risk. Early results allow couples to discuss options such as IVF with preimplantation genetic testing or prenatal diagnosis with their doctor.
How to Prepare and What to Expect
Preparation for this test is straightforward. Both partners need to attend the sample collection together.
Do You Need to Fast?
No fasting is required before this test. You can eat and drink normally before your appointment.
Practical Tips Before Your Test
The following steps will help ensure your sample is collected correctly and results are accurate:
- Bring a detailed clinical history report, including your symptoms, previous test results, and family history, as this is required for the test
- Inform the laboratory if either partner is currently taking any medications
- Ensure both partners attend the appointment together so samples can be collected and correctly labelled at the same time
- Wear clothing with easy access to the inner arm for the blood draw
- Stay well hydrated before your appointment
Step-by-Step Procedure
Here is what to expect during the sample collection appointment:
- Your doctor reviews your clinical history and reproductive goals before ordering the test.
- A trained phlebotomist (blood collection technician) will clean the inner arm of each partner and insert a small needle into a vein.
- A small blood sample (2 ml) is drawn from each partner into a lavender-top EDTA tube.
- Both samples are clearly labelled with each partner's identification details to prevent mix-ups.
- Samples are stored at 2 to 8°C and transported to the laboratory promptly.
- DNA is extracted and analysed using NGS technology. Results are reviewed by genetic specialists before being shared with your doctor.
Factors That Can Affect Accuracy
The following factors may influence the quality or reliability of results:
- Haemolysis (breakdown of red blood cells in the sample) can affect DNA quality
- Incorrect labelling of one or both partners' samples
- Incorrect ratio of blood to anticoagulant in the collection tube
- Incomplete or absent clinical history provided at the time of testing
- Delay in transporting samples to the laboratory
Understanding Your NGS Couple Carrier Screening + DMD + SMA Test Results
Results for this test require careful interpretation by a doctor or genetic counsellor. The table below shows the general reference values used.
| Parameter | Expected Result |
|---|---|
| SMN1 copy number | 2 or more copies (one on each chromosome) |
| DMD gene | No pathogenic (disease-causing) variants detected |
| Other gene variants | No pathogenic or likely pathogenic variants detected |
A normal result means no disease-causing variants were found in either partner, indicating a low risk of having an affected child. A positive carrier result in one partner does not necessarily mean a child will be affected. If both partners are carriers of the same condition, there is approximately a 1 in 4 (25%) chance that a child will inherit two copies of the variant and be affected.
For X-linked conditions such as DMD, female partners who carry one affected copy may not show symptoms themselves, but male children have a higher chance of being affected.
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
A specific SMN1 gene pattern, known as the "2+0" genotype (two copies on one chromosome and none on the other), can make SMA carrier detection more complex. The frequency of this pattern varies by ancestry. Your genetic counsellor will explain if this applies to your result.
How to Maintain Healthy Levels
Carrier status is a fixed genetic trait and cannot be changed by lifestyle. However, the following steps help couples manage their results constructively:
- Seek genetic counselling before and after testing to fully understand what your results mean for your family planning
- If both partners are identified as carriers, discuss reproductive options such as preimplantation genetic testing during IVF with a specialist
- Keep a record of your results and share them with any healthcare providers involved in your care
Lupin Diagnostics NGS Couple Carrier Screening + DMD + SMA Test Price and Home Collection
The NGS Couple Carrier Screening + DMD + SMA test is available at Lupin Diagnostics starting at ₹72,000, with home sample collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| Mumbai | 72000 |
| Pune | 72000 |
| Bangalore | 72000 |
| Chennai | 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 NGS Couple Carrier Screening + DMD + SMA test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home sample collection for this test across multiple cities in India. Both partners' blood samples are collected at your preferred location by a trained phlebotomist. All samples are processed in NABL-accredited laboratories, and digital reports are made accessible once ready.
Frequently Asked Questions
This is a genetic screening test that uses Next Generation Sequencing to check whether one or both partners carry inherited gene variants. It specifically includes analysis of the DMD gene (linked to Duchenne Muscular Dystrophy) and the SMN1 gene (linked to Spinal Muscular Atrophy), alongside a broad panel of other inherited conditions.
The test is recommended for couples planning a pregnancy, those undergoing IVF, couples who are related by blood, or anyone with a personal or family history of an inherited genetic condition. Testing before conception gives couples more time to understand their options.
The report is typically delivered within 40 days from the date of sample collection. The detailed analysis involved in sequencing many genes simultaneously accounts for this turnaround time.
No special preparation is needed. No fasting is required, and there are no dietary restrictions. Both partners should bring a clinical history record, including any previous test results or family records of inherited conditions, as this information is required at the time of testing.
A positive result means one or both partners carry a gene variant for a particular condition. If both partners carry a variant for the same condition, there is roughly a 25% chance a child will be affected. A genetic counsellor can explain exactly what the result means and what options are available.
No. The NGS couple carrier screening panel covers a large number of inherited disorders, but it does not detect every known genetic condition. The test identifies variants in the specific genes included in the panel. A genetic counsellor can clarify which conditions are and are not covered.
Yes. Genetic counselling is recommended for all couples undergoing carrier screening, particularly those who receive a positive result. A genetic counsellor will help you understand your results in the context of your family history and guide you through any next steps.
