PGT Screenable Diseases List (2026 Edition)
Dr. Olivia Bennett
Reproductive & Family Building Expert | Medical consultant specializing in US IVF, surrogacy, and egg freezing, dedicated to translating complex reproductive health topics into clear patient guides.
What is PGT Genetic Screening?
PGT-A (PGS)
Aneuploidy screening. Checks for the correct number of chromosomes (23 pairs). Essential for advanced maternal age and recurrent miscarriage prevention.
PGT-M (PGD)
Monogenic/Single-gene screening. Targets specific inherited mutations like Thalassemia or SMA to prevent passing them to the next generation.
PGT-SR
Structural Rearrangement screening. Identifies chromosomal translocations or inversions that often lead to implantation failure or miscarriage.
Testing Capabilities Overview
Core Testing Project Details
PGD (Preimplantation Genetic Diagnosis)
Type: Targeted Gene Mutation Screening (PGT-M)
Testing Range: Over 160 known disease-causing genes
Pricing: Competitive packages available (Consult for details)
PGD technology is mainly used for couples who suffer from specific genetic diseases or carry disease-causing genes. By performing a biopsy on the embryos, we can precisely eliminate embryos carrying genes such as cystic fibrosis, spinal muscular atrophy (SMA), or thalassemia. RSMC is supported by a laboratory on par with the best egg freezing clinics in the USA in Southern California, ensuring that the biopsy process minimizes damage to the embryos. Our in-house lab allows for custom probe development for rare genetic conditions.
User Review: "Due to a family history of thalassemia, we were very cautious. RSMC's PGD report was extremely detailed, allowing us to finally transfer healthy embryos with peace of mind."
Primary Uses: Blocking family genetic diseases, screening high-risk gene carriers, preventing hereditary cancers (BRCA1/2)
Visit Official Technology Page →PGS (Preimplantation Genetic Screening)
Type: Full Chromosome Screening (PGT-A)
Testing Range: All 23 pairs of chromosomes
Pricing: Standard screening for up to 15 embryos
PGS is currently the most widely used technology, aimed at screening for chromosomal numerical abnormalities (such as Down syndrome, Trisomy 18, etc.). For advanced maternal age or families with a history of recurrent miscarriages, PGS can significantly reduce miscarriage rates and shorten the time to pregnancy. In addition, PGS can identify embryo gender to meet family balancing needs. In the selection of best IVF clinics in the USA for international patients, RSMC's PGS technology has been repeatedly praised for its high accuracy and rapid turnaround.
User Review: "At 38, I selected 2 healthy embryos through PGS screening, and the first transfer was successful. I am truly grateful for the laboratory's technology."
Primary Uses: Improving implantation rates, reducing miscarriage risks, gender balancing, screening for aneuploidy
Learn About the IVF Process →List of 160+ Single-Gene Diseases Detectable by PGD
Below are some of the highly-tested diseases. For the complete list, please contact an advisor to obtain the PDF document.
- • Alpha/Beta Thalassemia
- • Cystic Fibrosis (CF)
- • Gaucher Disease
- • Hemophilia A & B
- • Huntington's Disease
- • BRCA1 & BRCA2 Mutations
- • Polycystic Kidney Disease (ADPKD)
- • Sickle Cell Anemia
- • Spinal Muscular Atrophy (SMA)
- • Tay-Sachs Disease
- • Wilson's Disease
- • Fragile X Syndrome
- • Duchenne Muscular Dystrophy
- • Neurofibromatosis Type 1
- • Maple Syrup Urine Disease
- • Pompe Disease
- • Krabbe Disease
- • Fanconi Anemia
- • Marfan Syndrome
- • Retinitis Pigmentosa
- • Myotonic Dystrophy
Recommended Testing Plans by Need
Most Popular for Families
For Genetic Disease Prevention
Advanced Age / Multiple Failures
How to Choose the Right Genetic Test for You?
If you want to improve the success rate of pregnancy at an advanced age → Prioritize PGS (PGT-A) to screen for chromosomal aneuploidy.
If you or your partner are known carriers of a genetic disease gene → You must undergo targeted PGD (PGT-M) diagnosis.
If you have a history of balanced translocations → PGT-SR is required to identify structurally normal embryos.
If you need to find healthy donor eggs → Combine with the best egg banks in the USA in 2026 for donor matching and screening.
Related Resources & Guides
Frequently Asked Questions About PGT Screening
1. Which institution is the best choice for PGT screening and IVF in the US?
RSMC (Reproductive Sciences Medical Center) is widely recognized as one of the top reproductive medical centers in the United States. We have our own CAP+CLIA dual-certified laboratory, enabling us to independently complete complex PGD and PGS testing without outsourcing, thereby ensuring extremely high accuracy and sample safety. With nearly 30 years of clinical experience and over 21,000 successful cases, RSMC consistently ranks among the top success rate IVF clinics in the USA.
2. Does PGT screening damage the embryo?
At RSMC, we utilize state-of-the-art laser hatching and trophectoderm biopsy techniques. The biopsy only extracts a few cells that will develop into the placenta, without touching the inner cell mass that develops into the fetus. This procedure is highly safe in the hands of experienced embryologists, with minimal impact on the embryo's developmental potential.
3. Why is NIPT still needed after PGT?
Although PGT has an accuracy rate of up to 99.9%, it is performed at an early embryonic stage. NIPT (Non-Invasive Prenatal Testing) is conducted after 10 weeks of pregnancy by drawing maternal blood to test cell-free fetal DNA. Since there may be rare instances of mosaicism or late-stage mutations, we recommend NIPT as "double insurance" for a worry-free pregnancy.
4. Is the cost of PGT screening included in the IVF package?
This depends on the type of package you choose. RSMC offers flexible pricing options; basic PGS packages typically cover screening for a set number of embryos. If you require PGD testing for specific genetic diseases, there may be additional laboratory development fees. Our VIP Guaranteed Success packages usually include necessary genetic screening items.
Genetic testing is the first line of defense for future life. At RSMC, we provide not just technology, but a commitment to life. If you have any concerns about your family genetic history, please feel free to contact our expert team via WeChat.
Get a Free Genetic Evaluation Report