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Meaning of the PGT-M test
PGT-M pre-embryo transfer genetic screening test helps couples choose gene-free/disease-free embryos to transfer into the mother's uterus to eliminate genetic mutations that cause disease in the next generation.
The PGT-M test will need to use the embryo sample and the reference sample as follows:
Sample of biopsied embryo (Day 3-5) or WGA product
Reference Sample
- Mandatory reference sample: Sample of Embryo's biological parents: 2-3ml of whole blood in an EDTA anticoagulant tube (with genetic test result information).
- Reference sample 3: Sample of the couple's existing child(s) who want to do PGT-M: 2-3ml of whole blood contained in an EDTA anticoagulant tube.
- Additional reference samples: in some cases, additional samples from the Embryo's grandparents may be requested: 2-3ml of whole blood contained in the EDTA anticoagulant tube.
Note: At a minimum, there must be a parent's reference sample.
The doctor will indicate embryo screening when it is known that the parent carries a mutation in one or more genes that cause the genetic disease. To determine whether you are a carrier of the abnormal gene or not, you can perform tests such as 13 hidden diseases combo, UltraGen at GENTIS to detect mutated genes.
PGT-M Test Procedure at GENTIS
Testing technology: MiSeq next-generation genome sequencing system.
+ Directly identify mutations on embryos (for point/indel mutations of less than 5 nucleotides).
+ Associated genetic analysis using SNPs located close to 2 sides of the mutation to be investigated.
+ Result turnaround time: Excluding public holidays
+ 12 days for 3 diseases: Myeloid atrophy, Duchenne muscle atrophy, Hemophilia, Thalassemia.
+ 30 days for diseases: G6PD enzyme deficiency, Phenylketonuria, Citrin deficiency, Wilson, Pompe, Cystic fibrosis, Fabry, Galactose metabolism disorder TYPE 1, Congenital hearing impairment, Adrenoleukodystrophy.
+ For other diseases, the result turnaround time depends on the types of gene mutations of the parents, for rare mutations, the time may be longer.
List of monogenic diseases performing PGT-M testing at GENTIS
| No. | DISEASE | GENE NAME | DISEASE INFORMATION |
| 1 | Thalassemia | HBA1, HBA2, HBB | Thalassemia is a blood genetic disease that is associated with a gene mutation that regulates the production of hemoglobin. The main manifestations are anemia and hemochromatosis, and many patients with thalassemia (congenital hemolysis) need to receive blood transfusions and take iron chelators for life. |
| 2 | Spinal muscular atrophy (SMA) | SMN1 | Spinal muscular atrophy (SMA) is a genetic disease that gradually destroys motor neurons – nerve cells in the brainstem and spinal cord that control essential musculoskeletal activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. |
| 3 | Duchenne muscular atrophy | DMD | Duchenne muscular atrophy is a disease that makes muscles weaker and less flexible over time. The muscles in the legs are usually one of the first and most visible affected sites. Children may be able to walk later, fall more easily, and have trouble climbing stairs or getting up. |
| 4 | Hemophilia A | F8 | Hemophilia is a genetic bleeding disease associated with the sexual X chromosome caused by a decrease in factor VIII (hemophilia A) or factor IX (Hemophilia B) leading to thromboplastin dysplasia that delays blood clotting. People with Hemophilia, who are deficient in blood clotting factor, or have low levels of the factor compared to normal people, which makes it difficult for blood clots to form. |
| 5 | Hemophilia B | F9 | |
| 6 | Congenital adrenal hyperplasia (CAH) | CYP21A2 | Congenital adrenal hyperplasia (CAH) is one of the hereditary endocrine diseases, which occurs due to disorders of adrenal hormone synthesis. Causes acute adrenal insufficiency and affects the development of the genital organs. |
| 7 | G6PD deficiency | G6PD | As the most common enzymatic disease on X chromosomes, boys are more susceptible to it than girls. Red blood cells will be destroyed, causing anemia due to hemolysis, mental and motor retardation, jaundice, and dark urine. |
| 8 | Phenylketonuria | PAH | The disease is characterized by intolerance to the amino acid Phenylalanine in daily meals. If not diagnosed early after birth and treated promptly, the disease can cause irreversible brain damage and mental retardation. |
| 9 | Citrine deficiency | SLC25A13 | The disease causes jaundice and cholestasis in infants. Children under 1 year old have a history of low weight and growth restrictions. Beyond 1 year old, children have symptoms such as hypoglycemia, pancreatitis, severe fatigue, loss of appetite, and decreased quality of life. Heavy weight usually begins suddenly in adulthood. Neurological symptoms appear. |
| 10 | Wilson's disease | ATP7B | It is a type of genetic disorder due to genetic abnormalities that causes the body to not eliminate residual copper, leading to the accumulation of copper in body tissues (liver, brain, eyes and other organs) and causing toxicity to the patient, even life-threatening |
| 11 | Pompe’s disease | GAA | Pompe's disease (PD) is a genetic metabolic disorder caused by a deficiency of acid α-glucosidase (GAA), which leads to the accumulation of glycogen in lysosomes, mainly in the skeletal muscle and heart muscle as well as the nervous system. Symptoms that appear immediately after the child is born include: weak muscle tone, eating difficulty, slow weight gain, heart defects, shortness of breath, swelling of the tongue, enlarged liver, weakened liver function, hearing loss,... |
| 12 | Fabry's disease | GLA | Fabry's disease is a type of inherited metabolic disorder, characterized by a deficiency of alpha-Galactosidase enzyme that causes a number of pathological conditions such as keratotic angiomas, corneal opacity, limb paresthesia, renal failure, heart failure, etc. |
| 13 | Metabolic disorder of galactose type 1 | GALT | This is a disease that causes disorders in the conversion of galactose into glucose, causing children to not be able to convert this sugar into energy to be used but accumulate in the blood. Early manifestations in the first few weeks after birth such as poor feeding or skipping breastfeeding, diarrhea, vomiting, coma, physical examination showing jaundice, subcutaneous hemorrhage, hepatomegaly, cataracts. |
| 14 | Congenital hearing loss | GJB2 | 60% of children are born with bilateral birth defects due to genetics And abnormalities of the GJB2 gene (recessive gene on autosomal chromosomes) are the most common cause of congenital hearing loss in children. Screening is no later than 1 month old for early detection and intervention, limiting the impact on children's language development. |
| 15 | Metachromatic leukodystrophy (MLD) | ARSA | Metachromatic leukodystrophy (MLD) is one of the diseases related to lipid storage, which causes a toxic accumulation of abnormal fats, which interfere with normal fats and proteins in the myelin shell. From 1-2 years of age, decreased muscle tone, behavioral decline, later paralysis, visual atrophy. Precocious puberty; from 5 to 10 years old, paralysis, epilepsy, death after 10-20 years. |
| 16 | Adrenal leukodystrophy (ALD) | ABCD1 | Adrenal leukodystrophy is a genetic disorder that occurs mainly in men, affecting the nervous system and adrenal glands. This is the most common hereditary disorder (peroxisome), caused by a gene mutation on chromosome Xq28, which has now isolated more than 200 mutations. |
| 17 | Ornithine transcarbamylase deficiency (OTC) | OTC | Ornithine transcarbamylase (OTC) deficiency is a genetic disorder that causes ammonia to build up in the blood. Infants with OTC deficiency may lack energy (apathy) or do not want to eat, and have poorly controlled breathing rates or body temperature. Complications due to ornithine transcarbamylase deficiency may include developmental delays and intellectual disability. Progressive liver damage can also occur. |
| 18 | Congenital hypothyroidism | SLC26A4 | It is a thyroid hormone deficiency disease caused by thyroid development problems or thyroid hormone biosynthesis disorders. |
| 19 | Smith-Lemli-Opitz syndrome | DHCR7 | Smith-Lemli-Opitz syndrome is a disease that disrupts the biosynthesis of cholesterol (reduced). Manifestations of intellectual retardation (100%); microcephaly (90%), cleft palate, small palate, heart defects; underdeveloped external genital organs in men; musculoskeletal deformities. |
| 20 | HLA conformity | Determine whether the embryo is suitable for HLA for the sick person so that after the baby is born, there will be a plan to store umbilical cord blood for stem cell transplantation. | |
| 21 | Cystic fibrosis (CF) | CFTR | Cystic fibroids, also known as cystic fibroids, are genetic disorders that cause the body to produce excessive sweat and mucus. The disease affects the functioning of the lungs, digestive system and genital organs. |
| 22 | Cartilaginous dysplasia (Achondroplasia) | FGFR3 | Achondroplasia is a rare group of inherited bone disorders. This is the most common form that has ever been called dwarfism, in which a child's arms and legs are short compared to their body length. The average height of adult males and females with achondroplasia is about 132cm and about 124cm, respectively. |
| 23 | Vitreous bone disease | COL1A1, COL1A2 | Vitreous bone is a phenomenon of brittle, fragile bones, and incomplete bone formation. The main reason for this condition is a disruption in the genetic process that makes bones fragile even under the influence of a small impact or injury. |
| 24 | Autosomal dominant polycystic kidney disease (ADPKD) | PKD1, PKD2 | Hereditary polycystic kidney disease is a genetic disorder in which clusters of cysts develop inside the kidneys, causing the kidneys to gradually increase in size and decline in function over time. |
| 25 | Familial hypercholesterolemia (FH) | LDLR | People with familial hypercholesterolemia are basically born with high levels of LDL cholesterol. People's cholesterol levels tend to increase with age, however, people with familial hypercholesterolemia have very high levels of baseline LDL cholesterol and rise faster over time. |
| 26 | Alport Syndrome | COL4A5 | Alport syndrome (hereditary nephritis) is a disease that damages the small blood vessels in the kidneys by attacking the renal platelets (the smallest filtration unit in the kidneys), leading to kidney disease and eventually kidney failure. |
| 27 | Brugada syndrome | SCN5A | Brugada syndrome is one of the most common causes of sudden death with causes related to cardiovascular diseases. The disease has the potential to cause life-threatening arrhythmias. People with this syndrome are at high risk of experiencing arrhythmias that originate from the ventricles located in the lower part of the heart. |
| 28 | Ichthyosis vulgaris | FLG | Ichthyosis is a condition in which the skin is damaged mainly due to genetics. Dead skin cells accumulate into patches of skin, thick and dry pieces like fish scales on the surface of the skin. The disease usually appears between the ages of 0 and 7 years, and there are even cases where the disease appears immediately after childbirth. |
| 29 | Marfan’s syndrome | FBN1 | Marfan’s syndrome in people with long limbs and long fingers is a genetic disorder that affects connective tissue. The most obvious signs of this disorder include height, thinness, abnormally long limbs, disproportionately long fingers and toes, protruding or concave sternum, curved spine, loose joints, large and flat feet, severe myopia. |
| 30 | Hemophagocytic Lymphohistiocytosis (HLH) | PRF1 | Hemophagocytic syndrome is a rare blood disease with a mortality rate of 15-60%, a common disease in children under 10 years old, for the primary form usually appears in children under 1 year old while the secondary form does not develop until about 6 years old. This is a syndrome in which histiocytic hyperactivity increases leading to erythrocytes, platelets, and white blood cells to be phagocytized. |
