NGS Couple Carrier Screening Test: Booking, Price, and Results
About NGS Couple Carrier Screening Test: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | Expanded Carrier Screening (ECS), Preconception Carrier Screening, Premarital Genetic Screening, Couple Carrier Screen |
| Sample Type | Peripheral blood (EDTA tube) from both partners |
| Fasting Required | No fasting required |
| Report Time | 35 days |
| Recommended For | Adults of reproductive age, both male and female partners, regardless of ethnicity |
| Price | Starting at ₹48,000 |
What is an NGS Couple Carrier Screening Test?
The NGS Couple Carrier Screening test is a genetic test that checks whether one or both partners carry gene mutations that could be passed on to their children. It uses Next Generation Sequencing (NGS), a technology that reads large sections of DNA in detail. The test is done on a peripheral blood sample collected from each partner. It is also known as Expanded Carrier Screening (ECS) or Preconception Carrier Screening.
What Does an NGS Couple Carrier Screening Test Measure?
The NGS couple carrier screening test procedure examines your DNA for pathogenic (disease-causing) variants across more than 2,000 genes. It looks for carrier status in two main categories of inherited disorders.
The test screens for carrier status across the following types of conditions:
- Autosomal recessive disorders: beta thalassaemia, sickle cell anaemia, cystic fibrosis, congenital adrenal hyperplasia, and spinal muscular atrophy (SMA)
- X-linked recessive disorders: Duchenne muscular dystrophy, haemophilia A and B, Hunter syndrome, G6PD deficiency, and X-linked intellectual disability
- Metabolic disorders: Gaucher disease and phenylketonuria
- Neurological conditions: Tay-Sachs disease and Fragile X syndrome
Why is an NGS Couple Carrier Screening Test Done?
This test is done to assess the risk of passing an inherited genetic condition to a child. Most carriers are completely healthy and unaware they carry a mutation, making screening the only way to identify this risk.
Common Symptoms That May Require This Test
Carriers typically have no symptoms at all. However, a doctor may recommend this test in the following situations:
- No symptoms, but planning a pregnancy or marriage (routine preconception screening)
- A family history of a known genetic disorder in either partner
- Previous pregnancy loss or recurrent miscarriages
- A child from a previous pregnancy diagnosed with a genetic condition
- Couples from the same community or region, where certain conditions are more common
- Couples who are related by blood (consanguineous couples)
- Couples undergoing IVF or preimplantation genetic diagnosis (PGD)
Conditions This Test Can Help Detect
The test screens for carrier status related to a wide range of inherited conditions, including:
- Thalassaemia and other haemoglobinopathies (blood disorders affecting haemoglobin)
- Sickle cell disease
- Cystic fibrosis
- Spinal muscular atrophy (SMA)
- Duchenne muscular dystrophy
- Fragile X syndrome
- Tay-Sachs disease
- Gaucher disease and phenylketonuria
NGS Couple Carrier Screening Test During Pregnancy
This test is ideally done before pregnancy so couples have more time to consider their options. It can also be done during pregnancy. Every pregnant woman should be offered information about carrier screening, particularly for cystic fibrosis, spinal muscular atrophy, and thalassaemia-related conditions.
How to Prepare and What to Expect
No special preparation is needed before an NGS couple carrier screening test. The process is straightforward for both partners.
Do You Need to Fast?
No, fasting is not required before this test. You can eat and drink as normal before giving your sample.
Practical Tips Before Your Test
A few simple steps will help ensure the process goes smoothly:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Ensure both partners are tested together for a complete and accurate risk assessment
- Inform the collection staff of any known family history of genetic conditions
- If you are already pregnant, arrange your appointment promptly, as timely sample collection is important
- Wear a top with sleeves that can be easily rolled up for the blood draw
Step-by-Step Procedure
Here is what to expect during the NGS couple carrier screening test procedure:
- Your doctor recommends carrier screening based on your medical history or as part of preconception planning.
- A certified phlebotomist collects a small blood sample (2 ml) from a vein in the arm of each partner.
- The blood is collected into a lavender-top EDTA tube and stored at 2 to 8 degrees Celsius for transport.
- The sample is sent to a NABL-accredited laboratory, where DNA is extracted and analysed using NGS technology.
- The laboratory examines the DNA for pathogenic variants across more than 2,000 genes linked to inherited disorders.
- Results are sent to your doctor within 35 days, and genetic counselling is offered to help you understand and act on the findings.
Factors That Can Affect Accuracy
The following factors may affect the reliability of the test results:
- Poor sample quality or insufficient DNA in the collected sample
- Delayed or improper handling and transport of the blood sample
- The test screens for known variants; new (de novo) mutations may not always be detected
- Not every possible mutation for each condition is included in the panel
- An incomplete clinical history was provided at the time of testing
Understanding Your NGS Couple Carrier Screening Test Results
Results from this test are genetic findings that require careful interpretation. A qualified doctor or genetic counsellor should always review your results in the context of your family history and reproductive plans.
| Result Type | Finding | Interpretation |
|---|---|---|
| Non-carrier | No pathogenic variants detected | Significantly lower risk of passing the screened genetic disorders to children |
| Carrier (heterozygous) | One copy of a pathogenic variant found | Typically healthy with no symptoms; carries one normal and one mutated copy of a gene |
| At-risk couple | Both partners carry variants for the same condition | 25% chance (1 in 4) with each pregnancy that the child will inherit the condition |
| Inconclusive | Variant of uncertain significance (VUS) detected | A genetic change was found but its clinical significance is not yet confirmed; further testing may be needed |
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
Genetic carrier status is fixed and cannot be changed through diet or lifestyle. The following steps are recommended if you receive your results:
- If you are identified as a carrier couple, consult a genetic counsellor to understand your reproductive options
- Inform close relatives that they may also be at risk of carrying the same mutation, as they may benefit from testing
- Use the results as a planning tool; knowing your carrier status before pregnancy allows the widest range of informed choices
Lupin Diagnostics NGS Couple Carrier Screening Test Price and Home Collection
The NGS couple carrier screening test cost at Lupin Diagnostics starts at ₹48,000, and home sample collection is available across cities. Both partners' samples can be collected at the same visit by a certified phlebotomist.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 48000 |
| CHENNAI | 48000 |
| HYDERABAD | 48000 |
| KOLKATA | 48000 |
| NAVI MUMBAI | 48000 |
| PUNE | 48000 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
Use the steps below to book your NGS couple carrier screening test online:
- Select the 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 35 days.
Home Collection
NGS couple carrier screening test home collection is available across cities, making it convenient for both partners to give their samples without visiting a centre. All samples are processed in NABL-accredited laboratories using NGS technology. Your digital report is delivered securely via email or WhatsApp.
Frequently Asked Questions
The NGS couple carrier screening test is a genetic test that checks whether you or your partner carry mutations in genes that could cause an inherited disorder in your child. It uses Next Generation Sequencing technology to scan more than 2,000 genes. Most carriers are completely healthy and show no signs of the condition they carry.
No, fasting is not required. You can eat and drink normally before your appointment. A small blood sample is collected from a vein in the arm.
Results for the NGS couple carrier screening test at Lupin Diagnostics are typically ready within 35 days from the date of sample collection.
If both partners carry a mutation for the same condition, there is a 25% chance with each pregnancy that the child will inherit the condition. A genetic counsellor can explain what this means for your situation and discuss the options available to you.
Yes. Many inherited conditions show no symptoms in carriers and can remain undetected for generations. The NGS couple carrier screening test is recommended for all couples planning a pregnancy, regardless of family history, as carriers often have no idea they carry a gene mutation.
Yes, carrier status does not change over time, so the test is done once for each specific set of conditions screened. If you have a new partner, however, they should also be tested independently to assess the combined risk as a couple.
Yes. Clinical history is required at the time of booking and sample collection. Providing accurate information about known genetic conditions in your family, previous pregnancies, and any relevant medical records helps the laboratory and your doctor interpret your results correctly.
NGS Couple Carrier Screening Test: Booking, Price, and Results
