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1

GENTIS - A Pioneer in PGT-M in Vietnam, Screening for 65 Diseases

Created date : 19-03-2024

Updated date: 08-10-2024

Author: Gentis

Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) combined with In Vitro Fertilization (IVF) has helped couples carrying rare genetic diseases to have healthy babies. GENTIS is proud to be a pioneer in the field of genetic analysis in Vietnam, performing PGT-M for 65 diseases.

GENTIS - A reputable organization performing PGT-M for 65 diseases

PGT-M is a preimplantation genetic screening for single-gene genetic diseases performed on embryos to screen for embryos that do not carry genetic diseases from their parents for transfer. This test is often indicated for couples carrying mutations that cause genetic diseases who wish to eliminate the disease or mutation in their offsprings. This is a very early screening method, before embryo transfer, so it can help avoid the situation of children being born with the disease as well as reduce the need to terminate pregnancy due to genetic mutations causing serious diseases.

Essentially, to perform PGT-M, couples need to undergo IVF to create embryos at Assisted Reproduction Centers. Qualified blastocysts will be biopsied (3-5 embryo cells will be taken from the area that will develop into the placenta later). The biopsied cell samples will be subjected to special testing methods to detect disease-carrying genes.

Currently, GENTIS has performed PGT-M screening for 65 single-gene diseases. This is one of the major advantages of GENTIS, which no other organization in Vietnam has achieved.

At GENTIS, alongside the application of new technological advancements, the utilization of modern equipment, and specialized analytical software, PGT-M testing is meticulously designed and executed to ensure the highest level of reliability in its results. Notably, GENTIS has currently implemented PGT-M screening for 65 single-gene disorders. This is a significant advantage that sets GENTIS apart as no other facility in Vietnam has achieved this capability.

List of 65 diseases that have been performed at GENTIS: What makes PGT-M at GENTIS special?

Number	Diseases' Name	Gene	Genetic Rules
1	Alpha Thalassemia	HBA1, HBA2	Recessive
2	Beta Thalassemia	HBB	Recessive
3	Spinal muscle atrophy	SMN1	Recessive
4	Duchenne muscular atrophy	DMD	X-linked
5	Hemophilia A	F8	X-linked
6	Hemophilia B	F9	X-linked
7	HLA matching	HLA
8	Congenital adrenal hyperplasia	CYP21A2	Recessive
9	Non-syndromic hearing loss	GJB2	Recessive
10	Congenital hearing loss	GPSM2	Recessive
11	Glucose-6 phosphate dehydrogenase deficiency	G6PD	Recessive
12	Phenylketonuria	PAH	Recessive
13	Citrin Deficiency	SLC25A13	Recessive
14	Wilson desease	ATP7B	Recessive
15	Pompe disease	GAA	Recessive
16	Cystic fibrosis	CFTR	Recessive
17	Fabry disease	GLA	Recessive
18	Galactose metabolism disorder TYPE 1	GALT	Recessive
19	Adrenal leukodystrophy	ABCD1	X-linked
20	White matter cerebral dystrophy	ISCA2	Recessive
21	White matter cerebral dystrophy	SETX	Recessive
22	Hypochromic leukodystrophy	ARSA	Recessive
23	5-alpha reductase Deficiency	SRD5A2	Recessive
24	Spinal muscular atrophy with type I respiratory failure	IGHMBP2	Recessive
25	Myotubular myopathy	MTM1	X-linked
26	Glass bones	COL1A1	Dominant
27	Glass bones	COL1A2	Dominant
28	Glass bones	P3H1	Recessive
29	Achondroplasia	FGFR3	Dominant
30	Marfan Syndrome	FBN1	Dominant
31	Central core myopathy	RYR1	Recessive
32	Muscle weakness	COL6A3	Dominant
33	Jeune Symdrome	DYNC2H1	Recessive
34	Adams- Oliver Symdrome	DOCK6	Recessive
35	Polycystic kidney disease is dominantly inherited	PKD1	Dominant
36	Polycystic kidney disease is dominantly inherited	PKD2	Dominant
37	Atypical hemolytic-uremic syndrome	CFH	Dominant-Recessive
38	Renal tubular dysfunction	ACE	Recessive
39	Alport Symdrome	COL4A5	X-linked
40	Hemophagocytic syndrome	PRF1	Recessive
41	Hemophagocytic syndrome	STXBP2	Recessive
42	Colon adenopathy	PAX7	Recessive
43	Harlequin ichthyosis	ABCA12	Recessive
44	Atopic dermatitis	FLG	Recessive
45	Familial hypercholesterolemia	LDLR	Dominant
46	Cardiac muscle relaxation	NEXN	Recessive
47	Brugada Symdrome	SCN5A	Dominant
48	Carnitine Acyltransferase Transferase (CACT) deficiency	SLC25A20	Recessive
49	Neonatal diabetes	ABCC8	Recessive
50	Neurofibromatosis	NF1	Dominant
51	Bohring-Optiz Symdrome	ASXL1	Recessive
52	NooNan 1 Symdrome	PTPN11	Dominant
53	NooNan 4 Symdrome	SOS1	Dominant
54	NooNan 5 Symdrome	RAF1	Dominant
55	Kalman syndrome	VPS33B	Recessive
56	Kalman syndrome	PROKR2	Dominant
57	Psychomotor disorders (EKD1)	PRRT2	Dominant
58	mucolipidosis II alpha/beta	GNPTAB	Recessive
59	Bipotent protein-D protein deficiency)	HSD17B4	Recessive
60	Transthyretin amyloidosis	TTR	Dominant
61	Aniridia (iridia)	PAX6	Dominant
62	Mitochondrial disorders	SARS2	Recessive
63	Hereditary cancer	MLH1	Dominant
64	Chronic granuloma	CYBB	X-linked
65	Tuberous sclerosis	TSC1	Dominant

The speciality of GENTIS's PGT-M tests.

As a pioneer in the field of genetic analysis, GENTIS is always researching and implementing the most advanced gene testing in personalized infertility treatment around the world, including PGT-M. Since 2017, GENTIS has performed over 500 cycles with over 2000 embryos for PGT-M Thalassemia, including both alpha Thalassemia and beta Thalassemia.

Of these, 8 cases with 44 embryos have been performed in combination with PGT-M for Thalassemia and HLA matching between the embryo and a sick child in the family. The goal is to store umbilical cord blood cells after the baby is born for hematopoietic stem cell transplantation for the sick baby.

GENTIS brings together a team of personnel with expertise and experience in performing PGT in general and PGT-M in particular

For rare diseases PGT-M, GENTIS has performed 94 cycles with a total of 434 embryos. To achieve these achievements, GENTIS has:

* Assembled a team of personnel with expertise and experience in performing PGT in general and PGT-M in particular.

* Equipped with a full system of machinery, equipment and laboratories, meeting the stringent requirements of the test.

* Has a full range of tests from screening for disease-causing mutations in parents and family members to screening for embryos based on the results of the parents' tests.

* Has a team of genetic counselors before, during and after testing.

With the rapid development of modern technology, GENTIS will continue to research and implement PGT-M for other rare genetic diseases, contributing to the success of pre-implantation screening and bringing healthy babies to families.