GCT Basic. The analysis of 49 genes that can cause the 50 major recessive and X-linked diseases
The basic genetic compatibility test (GCT) is a basic screening that analyses the most prevalent diseases in the population due to the high incidence of carriers in the general population. This preconception genetic screening analyses the 49 genes responsible for the 50 recessive and X-linked diseases recommended by the Spanish Fertility Society (SEF).
Every couple that undergoes assisted reproduction techniques at Instituto Bernabeu can access the most accessible carrier filter in order to avoid the risk of transmitting genetic diseases to their offspring, with the birth of a healthy child.
THE 50 RECESSIVE DISORDERS DETECTED BY THE GENETIC COMPATIBILITY TEST (GCT)
| Alpha-1 antitrypsin deficiency | SERPINA1 |
| Wilson’s disease | ATP7B |
| Cystic fibrosis | CFTR |
| Stargardt disease | ABCA4 |
| Omenn syndrome (severe combined immunodeficiency) | DCLRE1C |
| Androgen insensitivity syndrome | AR |
| Non-syndromic sensorineural deafness | GJB2 |
| Thomsen’s myotonia | CLCN1 |
| Haemoglobinopathies and alpha thalassaemia | HBA1 |
| Tyrosinaemia type 1 | FAH |
| Alpha thalassaemia | HBA2 |
| Pompe disease | GAA |
| Beta thalassaemia and sickle cell disease | HBB |
| Oculocutaneous albinism type 1 | TYR |
| Congenital adrenal hyperplasia | CYP21A2 |
| Tay-Sachs disease | HEXA |
| Glucose-6-phosphate dehydrogenase deficiency | G6PD |
| Autosomal recessive Limb-girdle muscular dystrophy type 2A | CAPN3 |
| Phenylketonuria | PAH |
| Homocystinuria | CBS |
| Spinal muscular atrophy | SMN1 |
| Epidermolysis bullosa dystrophica | COL7A1 |
| Spastic paraparesis | SPG7 |
| Leber’s congenital amaurosis | CRB1 |
| Oculocutaneous albinism type II | OCA2 |
| Fragile chromosome X syndrome | FMR1 |
| Alport syndrome | COL4A3 |
| Mucopolysaccharidosis type IVa | GALNS |
| Alport syndrome | COL4A4 |
| Gaucher disease type 1 | GBA |
| Pendred Syndrome/Deafness | SLC26A4 |
| Hypogonadotropic hypogonadism | GNRHR |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | ACADM |
| Mucopolysaccharidosis type IIIC (San Filippo) | HGSNAT |
| Smith-Lemli-Opitz Syndrome | DHCR7 |
| Usher syndrome 1b | MYO7A |
| Autosomal recessive polycystic kidney disease (ARPKD) | PKHD1 |
| Auditory neuropathy/deafness | OTOF |
| Congenital disorder of glycosylation 1A | PMM2 |
| Oguchi disease/Retinitis pigmentosa | SAG |
| Niemann-Pick disease | SMPD1 |
| Autosomal recessive non-syndromic deafness | TMPRSS3 |
| Fructose intolerance | ALDOB |
| Hypothyroidism | TSHR |
| Family Mediterranean Fever | MEFV |
| Haemophilia A | F8 |
| Retinitis pigmentosa autosomal recessive/ Usher syndrome type 2 | USH2A |
| Haemophilia B | F9 |
| Long-chain acyl-coenzyme A dehydrogenase deficiency | ACADVL |