PGT-M: to detect specific genetic alterations

PGT-M or Preimplantation Genetic Testing for Mendelian disorders is a technique applied to determine specific (hereditary) genetic abnormalities that may compromise your baby's health.

Reproductive health science has developed effective tools to significantly reduce the chances of having a baby with a genetic abnormality by analyzing embryos before their transfer to the uterus in an In Vitro Fertilization process.

There are various hereditary genetic abnormalities that can be classified into three groups: autosomal dominant, autosomal recessive, and numerical abnormalities.

Many times we are unaware whether we are carriers of hereditary diseases, and carrying them represents a risk for our future children. If you would like to learn about any potential risks, at Ingenes we can guide you, so you can have better family planning with your Assisted Reproduction treatment.

What is a PGT-M test?

PGT-M is a test to rule out specific hereditary diseases associated with single gene mutations (monogenic) or caused by a chromosomal rearrangement (translocations and inversions).

Genetic alterations occur due to a mutation, insertion, or deletion that affects the proper functioning of genes.

On the other hand, rearrangements occur when a chromosome breaks and the fragmented pieces are added out of place to different chromosomes or within the same chromosome.

This could compromise the well-being of your future baby, predisposing them to develop a syndrome that could be prevented.

Preimplantation Genetic Testing is available as a complementary technique for people undergoing assisted reproduction treatment such as In Vitro Fertilization (IVF), reducing the chances of the baby being born with certain hereditary genetic disorders.

Who is PGT-M intended for?

The PGT-M test is usually recommended by specialists in Assisted Reproduction for people who are at risk of passing on a specific genetic disease, particularly those who are within the following groups:

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• Patients with a family history of any hereditary genetic disorders.

• Patients who have or have had a child with any hereditary genetic disorders.

• Patients who have been diagnosed as carriers or affected by any hereditary genetic disorder.

• Patients who belong to the same community or have a history of consanguinity.

The main syndromes that can be detected with a PGT-M are:

There are many syndromes that can compromise the quality of life of your future baby. PGT-M detects a specific mutation, deletion, or insertion present in a single gene, which results in a specific disorder, with a high probability of being passed on from parents to children. That is to say, PGT-M detects diseases associated with a change in a single gene.

Some of the genetic alterations this test can detect include:

• Cystic fibrosis
• Spinal Muscular Atrophy
• Duchenne Muscular Dystrophy
• Fragile X Syndrome
• Hemophilia
• Thalassemia
• Tay-Sachs Disease
• Chromosomal rearrangements such as translocations and chromosomal inversions
•Among others.

Click for a complete list of diseases that we can detect with a PGT-M, this is at the discretion of your treating physician:

3-methylglutaconic aciduria type 1
6-pyruvoyl-tetrahydropterin synthase deficiency
ABO isoimmunization
Achondroplasia
Achromatopsia
Argininosuccinic aciduria
Acyl-CoA dehydrogenase deficiency
Adenosine deaminase deficiency
Adrenoleukodystrophy
Adult syndrome
Aicardi Goutieres syndrome
Aicardi-Goutières syndrome
Alagille syndrome
Albright syndrome
Alpha thalassemia
Alpha-1 antitrypsin deficiency
Alpha-thalassemia X-linked intellectual disability syndrome
Alport syndrome
Alström syndrome
Amyotrophic lateral sclerosis
Familial amyotrophic lateral sclerosis
Androgen insensitivity syndrome
Aniridia
APECED syndrome
Apparent mineralocorticoid excess
Arterial tortuosity syndrome
Ataxia-oculomotor apraxia type 1
ATIC deficiency
Autism spectrum disorder
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive polycystic kidney disease
Citrullinemia
Cleidocranial dysostosis
Clouston syndrome
COFS syndrome
Band-like calcification with simplified gyration and polymicrogyria
Bardet-Biedl syndrome
Bartter syndrome
Best macular dystrophy
Beta thalassemia
Biotinidase deficiency
Biotin-responsive basal ganglia disease
Blackfan-Diamond disease
Blepharophimosis-epicanthus inversus-ptosis syndrome
Bruck syndrome
Brugada syndrome
Bruton agammaglobulinemia
CADASIL
Canavan disease
Carbamoyl-phosphate synthase deficiency
Carbonic anhydrase type 2 deficiency
Cartilage-hair hypoplasia
Catecholaminergic polymorphic ventricular tachycardia
Caveolinopathy
CDK9 syndrome
Central core disease
Cerebellar hypoplasia
Charcot-Marie-Tooth disease type 2A
X-linked Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata type 1
Grebe chondrodysplasia
Choroideremia
Chronic granulomatous disease
Cohen syndrome
Combined oxidative phosphorylation deficiency
Congenital adrenal hyperplasia
Congenital cataracts
Congenital cerebellar ataxia
Congenital heart disease
Congenital ichthyosis
Congenital lamellar ichthyosis
Congenital muscular dystrophy due to merosin deficiency
Congenital megaconial muscular dystrophy
Congenital myasthenic syndromes with glycosylation defects
Congenital nephrotic syndrome
Congenital tufting enteropathy
Corneal dystrophy
Cornelia de Lange syndrome
Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease
Cystoid macular dystrophy
Congenital cytomegalic adrenal hypoplasia
D,L-2-hydroxyglutaric aciduria
Darier's disease
Glucose-6-phosphate dehydrogenase deficiency
Hereditary xerocytosis
Diastrophic dysplasia
Diffuse gastric cancer
Dihydropyrimidine dehydrogenase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dominant polycystic kidney disease
Duchenne/Becker muscular dystrophy
Duffy isoimmunization
X-linked congenital dyskeratosis
Dystrophic epidermolysis bullosa
Ectodermal dysplasia
EIF2B3-related leukodystrophy
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy
Epileptic encephalopathy
Fabry disease
Ectodermal dysplasia
EIF2B3-related leukodystrophy
Ellis-van Creveld syndrome
Emery-Dreifuss muscular dystrophy
Epileptic encephalopathy
Fabry disease
Facioscapulohumeral muscular dystrophy
Factor XIII deficiency
Familial adenomatous polyposis
Familial amyloid polyneuropathy
Familial dysautonomia
Familial hyperaldosteronism
Familial hypertrophic cardiomyopathy
Steroid-resistant familial idiopathic nephrotic syndrome with focal segmental glomerulosclerosis
Isolated arrhythmogenic right ventricular dysplasia
Isolated familial dilated cardiomyopathy
Familial Mediterranean fever
Familial spastic paraplegia
Familial thoracic aortic aneurysm
Fanconi anemia
Fatal familial insomnia
Multiple mitochondrial dysfunction syndrome
FGFR1-related disorder
Focal dermal hypoplasia
Fragile X syndrome
Fraser syndrome
Galactosemia
Gangliosidosis
Gaucher disease
Geleophysic dysplasia
Gerstmann-Straussler-Scheinker syndrome
Glanzmann thrombasthenia
Glycine encephalopathy
Glycogen storage disease
Glucose-6-phosphatase deficiency glycogenosis
GNE-related disorders
Gorlin syndrome
GSS syndrome
Harlequin ichthyosis
Hereditary hemolytic anemia due to pyruvate kinase deficiency in erythrocytes
Hemophagocytic lymphohistiocytosis
Hemophilia A
Hemophilia B
Hereditary angioedema
Hereditary breast cancer
Hereditary pancreatitis
Hereditary fructose intolerance
Hereditary hearing loss
Hereditary hemorrhagic telangiectasia
Hereditary multiple exostoses
Hereditary Parkinson's disease
Hereditary spherocytosis
Hermansky-Pudlak syndrome
Hypomyelinating leukodystrophy
HLA typing
Holoprosencephaly
Homocystinuria
Hunter syndrome
Huntington's disease
Hurler syndrome
Hyper IgD syndrome
Hyperinsulinism
Hyperkalemic periodic paralysis
Hypochondroplasia
Hypohidrotic ectodermal dysplasia
-Hypoparathyroidism-retardation-dysmorphism syndrome
-X-linked hypophosphatemic rickets
-Idiopathic dystonia
-Incontinentia pigmenti
-Infantile liver failure syndrome 1
-Intestinal atresia
-IPEX syndrome
-Isolated sulfite oxidase deficiency
-Isovaleric acidemia
-Juvenile asphyxiating thoracic dystrophy
-Joubert syndrome
-Junctional epidermolysis bullosa
-Kell isoimmunization
-Kennedy disease
-Krabbe disease
-L1 syndrome
-L-aromatic amino acid decarboxylase deficiency
-Larsen syndrome
-LCHADD
-Leber congenital amaurosis
-Leigh disease with leukodystrophy
-Leigh syndrome
-Leopard syndrome
-Leprechaunism
-Leri Weill dyschondrosteosis
-Leukodystrophy
-Leukoencephalopathy with vanishing white matter
-Li-Fraumeni syndrome
-Limb-girdle muscular dystrophy
-Lipofuscinosis
-Lissencephaly type 1 (X chromosome)
-Long QT syndrome
-Lowe syndrome
-Lymphedema-Distichiasis syndrome
-Lynch syndrome
-Macular dystrophy
-Marfan syndrome
-McArdle disease
-Menkes disease
-Mental retardation
-Mental retardation-strabismus syndrome
-Merkel-Gruber syndrome
-Metachromatic leukodystrophy
-Methylmalonic acidemia
-Microcephaly
-Microphthalmia
-Microvillus inclusion disease
-Mitochondrial complex IV deficiency
-Mitochondrial enoyl-CoA hydratase 1 deficiency, short chain
-Mitochondrial DNA depletion syndrome
-Molybdenum cofactor deficiency
Morbus-Crouzon Syndrome
Mucin-1 related kidney disease
Mucolipidosis II
Mucopolysaccharidosis I
Mucopolysaccharidosis II
Mucopolysaccharidosis IIIA
Mucopolysaccharidosis IV-A
Muenke Syndrome
Multiple Endocrine Neoplasia 1
Multiple Endocrine Neoplasia 2A
Multiple Endocrine Neoplasia 2B
Multiple intestinal atresia
Myoclonus Dystonia
N-Acetyl-alpha-D-galactosaminidase deficiency
Nail-Patella Syndrome
Nanophthalmia
Nemaline Myopathy
Neurofibromatosis 1
Neurofibromatosis 2
Niemann-Pick Disease Type A/B
Niemann-Pick Disease Type C
Non-ketotic Hyperglycinemia
Non-specific X-linked Intellectual Disability
Noonan Syndrome
Norrie Disease
Nuclear cataract
Oculocutaneous Albinism
Oculodentodigital Dysplasia
Ohtahara Syndrome
Ornithine Transcarbamylase Deficiency
Osteochondrodysplasia
Osteogenesis Imperfecta
Osteopetrosis
Oxoglutaricaciduria
Papillorenal Syndrome
Paraganglioma/Phaeochromocytoma
Partial STAT1 Deficiency
Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher-like Disease
Peraganglioma/Phaeochromocytoma
Periventricular heterotopia
Peters Plus Syndrome
Peutz-Jeghers Syndrome
Pfeiffer Syndrome
Phenylketonuria
Pompe Disease
Pressure-sensitive neuropathy
Primary Ciliary Dyskinesia
Progressive External Ophthalmoplegia
Progressive Familial Intrahepatic Cholestasis
Propionicacidemia
Proximal Myopathy with Extrapyramidal Signs
Pseudoachondroplasia
Pseudohermaphroditism
Pyridoxal Phosphate Responsive Epilepsy
Pyruvate Carboxylase Deficiency
Rendu-Osler-Weber Syndrome
Retinitis Pigmentosa
Retinoblastoma
RhCE Isoimmunization
RhD Isoimmunization
Sandhoff Disease
Schaaf-Yang Syndrome
Schwannomatosis
Sensory Ataxic Neuropathy - Dysarthria - Ophthalmoparesis
Shwachman-Diamond Syndrome
Sickle Cell Anemia
Simple Epidermolysis Bullosa
Simpson-Golabi-Behmel Syndrome
Smith-Lemli-Opitz Syndrome
Spinal Muscular Atrophy
Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 36
Spondylometaphyseal Dysplasia
Stargardt Disease
Steinert Myotonic Dystrophy
Steroid-resistant Nephrotic Syndrome
Stickler Syndrome Type 1
Stuve-Wiedemann Syndrome
Synaptic Congenital Myasthenic Syndromes
Lethal Congenital Contracture Syndrome Type 2
Van der Knapp Syndrome
Tay Sachs Disease
Temtamy syndrome
Thyminuria
Tibial muscular dystrophy
Treacher Collins syndrome
Tuberous sclerosis
Tyrosinemia type I
Maple syrup urine disease
Usher syndrome
Van den Ende-Gupta syndrome
Van der Woude syndrome
Variable penetrance hypertrophic cardiomyopathy
Vitelliform macular dystrophy
Von Hippel-Lindau syndrome
Walker-Warburg syndrome
Warburg micro syndrome
Wiskott-Aldrich syndrome
Wolman syndrome
Woodhouse-Sakati syndrome
X-linked adrenoleukodystrophy
X-linked agammaglobulinemia
Zellweger syndrome

Consult your leading specialist about the possibility of carrying out a screening for any of the genetic disorders listed above*

How is the PGT-M test performed?

At Ingenes, our PGT-M includes the analysis of chromosomal numerical abnormalities (PGT-A), in addition to the analysis of the specific genetic alteration carried by the patient. The process we carry out at Ingenes works the following way:

1.

The process begins with the collection of patient information, including genetic studies and family history, to identify their needs. With this information, it is possible to determine whether they are candidates for the test or whether an informative study is required to characterize the specific genetic mutation of interest.

2.

If necessary, an informative study is conducted, which is accompanied by personalized genetic counseling to determine whether patients are candidates for PGT-M.

3.

The test is carried out in the In Vitro Fertilization (IVF) laboratory by an expert in Assisted Reproduction, then, embryos with the best potential are selected for analysis.

4.

This technique begins with the biopsy collection without interfering with embryo development on the 3rd, 5th, or 6th day of development, to be analyzed with the help of advanced molecular biology techniques, using the best available technology on the market.

5.

The genomic analysis is carried out, where the results show which embryos are free of specific genetic disorders (PGT-M) and free of chromosomal aneuploidies (PGT-A).

6.

Finally, a second genetic counseling session is provided to explain to the patients their options for selecting the best embryos to transfer.

You will be in the best hands!

Our research team is dedicated to innovation and education in reproductive sciences, developing cutting-edge technology and tests such as PGT-A, in partnership with renowned researchers from Cinvestav-IPN.

Reach out to us and find the assurance you need.

Schedule an appointment with us to detect specific genetic alterations that may compromise the quality of life of your future baby. Click on the button below to schedule your appointment and have our clinical geneticists determine if you are a candidate for this test.

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