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amarinichev@ngc.clinic
international@ngc.clinic
NGC Clinic · St. Petersburg, Russia

Carrier Screening for Inherited Diseases: NextGen 21 Test

NextGen 21 is a precise NGS-based genetic test that checks whether you carry mutations linked to 18 of the most common and most severe inherited diseases — including cystic fibrosis, spinal muscular atrophy, Duchenne muscular dystrophy and beta-thalassemia. Developed by NGC, it helps future parents, donors and patients with family risks understand their genetic status before pregnancy.

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18 inherited diseases
99% sensitivity / 99% specificity
NGS technology
Included in egg & sperm donor screening
In-house genetics laboratory
Geneticist consultation & result interpretation
From €386
THE BASICS

What is carrier screening?

Each of us can be perfectly healthy and still carry a gene change linked to an inherited disease — usually without ever knowing it. Most carriers have no symptoms at all.

The risk appears when both partners carry a change in the same recessive gene. In that case, each pregnancy can have a higher chance of a child affected by a serious condition. Carrier screening is a one-time genetic test that reveals this risk in advance, so you and your doctor can plan with full information.

There are two broad approaches. Expanded panels screen for hundreds of mostly rare conditions; their added clinical benefit over a focused panel is still debated, and they can return findings that are difficult to interpret. Targeted panels like NextGen 21 concentrate on the diseases that are both common and severe — keeping results clear and actionable. Our geneticist can advise which approach fits your situation.

Carrier screening before or early in pregnancy is supported by leading professional bodies such as ACOG (American College of Obstetricians and Gynecologists) and ACMG (American College of Medical Genetics and Genomics).

Fertility consultation at NGC Clinic
WHO IT'S FOR

Who is NextGen 21 for?

Carrier screening can be considered by anyone planning a family. It's especially valuable in the situations below — our geneticist will confirm what's relevant for you.

Couples planning pregnancy or IVF

The best time to test is before conception, when you have the most options.

  • Know your genetic status before you start trying
  • Identify shared recessive risks as a couple, not just individually
  • Plan IVF with PGT if a shared risk is found
  • One-time test — results stay valid for future pregnancies
  • Reduce the chance of an unexpected diagnosis later

Families with a history of inherited disease

A known condition in the family raises the odds you carry the same gene.

  • Cystic fibrosis, beta-thalassemia, SMA in close relatives
  • Tay-Sachs, Wilson's disease, Gaucher disease in the family
  • A relative who is a known carrier
  • A previous child or pregnancy affected by an inherited disease
  • Targeted screening for the conditions that matter most to you

Consanguineous couples

Related partners share more DNA — and a higher chance of the same mutation.

  • Higher probability both partners carry the same recessive change
  • Recommended even with no symptoms on either side
  • Clear, couple-level risk assessment before pregnancy
  • Geneticist explains your specific reproductive risk
  • Options planning if a shared carrier status is found

Higher-risk ethnic backgrounds

Some inherited conditions are more common in certain populations.

  • Mediterranean ancestry — higher beta-thalassemia carrier rate
  • Ashkenazi Jewish ancestry — higher Tay-Sachs and Gaucher risk
  • Screening for conditions relevant to your background
  • Pan-ethnic NGS analysis — no assumptions, real data
  • Results interpreted in the context of your family history

Egg and sperm donors & recipients

Every NGC donor is screened with NextGen 21.

  • Choose a donor with a known genetic status
  • Reduces the risk of matching two carriers of the same condition
  • Built into NGC's standard donor evaluation
  • Adds a layer of safety to donor and embryo programs
  • Coordinator helps match donor and recipient genetics
  • Suitable for patients with previous IVF failures or recurrent miscarriage

Patients who want a clear, timely decision

When you need to understand your risks quickly and choose the right path.

  • A fast, clear answer on your carrier status
  • Helps you decide between IVF, PGT or donor options
  • Targeted panel means quicker, actionable results
  • Avoids delays when planning time-sensitive treatment
  • Geneticist helps you weigh the options with confidence

Not sure if you need it?

Carrier screening isn't necessary for everyone, and the right panel depends on your medical history and your plans. Our geneticist will review your background, explain what the test would — and wouldn't — tell you, and recommend the option that fits your situation. No obligation, just clear expert guidance so you can take the next step with confidence.

WHAT'S TESTED

Genes & diseases covered

NextGen 21 covers 18 inherited diseases, grouped below. Each gene was chosen on three grounds: how severe the condition is, how common it is, and whether knowing early opens the door to planning or intervention. Inheritance type is marked on every entry: AR · AD · X-linked.

Spinal muscular atrophy

SMN1 · AR

Progressive loss of motor neurons and muscle weakness

Duchenne muscular dystrophy

DMD · X-linked

Progressive muscle degeneration, mainly affecting boys

Myotonic dystrophy type 1

DMPK · AD

Progressive, multisystem muscle weakness and wasting

Huntington's disease

HTT · AD

Adult-onset progressive neurodegenerative disorder

Charcot-Marie-Tooth

PMP22 · AD

Inherited disorder of the peripheral nerves

Tay-Sachs

HEXA · AR

Severe inherited neurodegenerative disorder

Beta-thalassemia

HBB · AR

Severe inherited anemia requiring ongoing care

Sickle cell disease

HBB · AR

Abnormal hemoglobin; pain crises and organ damage

Hemophilia A

F8 · X-linked

Inherited blood-clotting disorder

Phenylketonuria

PAH · AR

Metabolic disorder; manageable with early diagnosis and diet

Mucopolysaccharidosis type I

IDUA · AR

Metabolic storage disorder affecting many organs

Gaucher disease

GBA · AR

Inherited lipid-storage disorder

Cystic fibrosis

CFTR · AR

Chronic, life-shortening disease of the lungs and digestion

Polycystic kidney disease

PKD1 / PKD2 · AD

Kidney cysts that can lead to kidney failure

Wilson's disease

ATP7B · AR

Copper build-up harming liver and brain; treatable if caught early

Familial adenomatous polyposis

APC / MUTYH · AD / AR

Numerous colon polyps; high colorectal cancer risk

Von Hippel–Lindau

VHL · AD

Inherited predisposition to tumours and cysts

Hereditary breast & ovarian cancer

BRCA1 / BRCA2 · AD

Inherited predisposition to breast and ovarian cancer

Step by Step

How the NextGen 21 test works

Request

Submit an online enquiry or order NextGen 21 directly. Our coordinator confirms the details and guides you through every step that follows.

Consultation

An NGC specialist reviews your medical and family history, confirms the test suits your situation, and explains exactly how your sample will be collected.

Sample collection

A blood sample is collected and prepared for analysis at NGC. International patients arrange collection with our coordinators.

NGS analysis

NGC's in-house genetics laboratory sequences all genes on the panel using next-generation sequencing technology and carefully analyses your data.

Report & interpretation

You receive a written report with results and recommendations.

Next steps

If both partners carry the same condition, our geneticist calculates your reproductive risk and explains the options: PGT during IVF, donor programs, prenatal diagnosis and more.

Note: The test is safe, requires no anaesthesia, and is best done before pregnancy — though it can also be performed during pregnancy if needed.

Our Advantages

Why choose NextGen 21 at NGC?

A targeted, meaningful panel

NextGen 21 focuses on 18 severe, common inherited diseases rather than hundreds of rare ones. That keeps your results clear, relevant and easy to act on.

High accuracy

The test delivers 99% sensitivity and 99% specificity using next-generation sequencing. You get a result you and your doctor can rely on with confidence.

In-house genetics lab

All sequencing and analysis are performed in NGC's own laboratory, with no outsourcing. That means tighter quality control and faster, more dependable results.

Built into our donor programs

Every egg and sperm donor at NGC is screened with NextGen 21. Recipients can choose a donor with a known genetic status — an extra layer of safety.

Affordable & transparent

NextGen 21 has a clear price from €386 with no hidden fees. Because the sample is taken here, there's no costly overseas shipping of genetic material.

Expert geneticist support

Our geneticists interpret your results and explain what they mean for you. Your doctor then builds individual recommendations tailored to your family's situation.

Fast, actionable results

You receive a written report in around two weeks, followed by a consultation. Knowing your status early gives you the widest range of options to plan ahead.

One ART partner for everything

NextGen 21 connects directly to NGC's IVF, PGT-A and donor programs. International patients also get full coordinator and travel support from start to finish.

Investment

Price & what's included

NextGen 21 has a clear, fixed price that covers the full test and your geneticist consultation. Any additional services — such as partner testing or related programs — are quoted separately, so you always know what you're paying for.

from €386
What's included

  • Analysis of the NextGen 21 panel — 18 inherited diseases
  • Laboratory work using NGS technology
  • A written report with your results
What is paid extra

  • Geneticist consultation & individual recommendations
  • Partner testing
  • PGT-A & embryo genetic testing
  • Donor programs & infertility treatment
  • Recipient medicines (pre- and post-transfer medication support)

Payment: prepayment or payment on visit; cashless options are available for international patients.

Questions & Answers

Frequently Asked Questions

What is carrier screening, and why does it matter?

Carrier screening is a genetic test that shows whether you carry a gene change linked to an inherited disease. Most carriers are completely healthy and have no symptoms. The risk appears only when both partners carry a change in the same recessive gene — then each pregnancy can have a higher chance of an affected child. Knowing your status before pregnancy lets you and your doctor plan with full information.

How is NextGen 21 different from expanded panels with hundreds of genes?

Expanded panels screen for several hundred mostly rare conditions, but their added clinical benefit over a focused panel is still debated, and they can return findings that are hard to interpret. NextGen 21 concentrates on 18 of the most common and most severe inherited diseases, which keeps your results clear and actionable. If a broader panel suits your situation, our geneticist will tell you.

Who should consider carrier screening?

Leading professional bodies such as ACOG and ACMG support offering carrier screening to anyone planning or already in pregnancy. It is especially relevant if you have a family history of an inherited disease, are in a consanguineous relationship, or come from a higher-risk ethnic background. It is also routine for egg and sperm donors.

Can I take the test if I'm already pregnant?

Yes. Carrier screening can be done before or during pregnancy. Testing before conception gives you the widest range of options; if you are already pregnant, earlier testing leaves more time to plan. Our coordinator will advise on timing for your situation.

How accurate are the results?

NextGen 21 uses next-generation sequencing with stated analytical sensitivity and specificity of 99%. No genetic test detects 100% of all possible mutations, so a negative result greatly reduces — but does not entirely eliminate — the chance of being a carrier. Your geneticist will explain what your specific result means.

What happens if both partners are carriers of the same disease?

Our geneticist calculates your reproductive risk and walks you through the options. These can include PGT (testing embryos during IVF), using a screened egg or sperm donor, prenatal diagnosis, or other paths. The decision is always yours, made with full guidance.

Do I need a doctor's referral?

You can request NextGen 21 and a consultation directly through NGC — our specialist reviews your medical and family history first.

Can I order the test from abroad?

Yes. International patients arrange the test through our coordinators, who handle scheduling, the blood-sample collection and travel support. Your written report and geneticist consultation can be provided remotely.

Get Started

Ready to Begin Your Journey?

Our international patient coordinators are available to answer your questions, help you choose a program, and arrange your treatment plan — at no cost.