Nowadays, all couples who wish to avoid passing on genetic disorders to their children can choose to do so through a Genetic Compatibility Test (GCT), also known as Prenatal Recessive Disorder Screening.
The Instituto Bernabeu GCT is a groundbreaking analysis that uses next-generation DNA sequencing (NGS) through which we study 555 genetic mutations which cause over 600 autosomal recessive disorders in a simple blood sample.
Please see below the list of mutations analysed by the GCT we do at INSTITUTO BERNABEU:
The 613 recessive diseases detected by the Genetic Compatibility Test (GCT), from 1st of July 2020
The 600 recessive disorders detected by the Genetic Compatibility Test (GCT)
13 new recessive diseases detected by the Genetic Compatibility Test (GCT), from 1st of July 2020
GENE
LOCUS
DISEASE
OMIM
SERPINA1
14q32.13
Alpha-1-antitrypsin deficiency
613490
SPG7
16q24.3
Autosomal recessive spastic paraplegia type 7
607259
OCA2
15q12
Oculocutaneous albinism type 2
203200
SLC26A4
7q22.3
Autosomal recessive non-syndromic sensorineural deafness type DFNB/Pendred syndrome
274600
CLCN1
7q34
Thomsen and Becker disease
160800
TYR
11q14.3
Oculocutaneous albinism type 1A
203100
CAPN3
15q15.1
Calpain-3-related limb-girdle muscular dystrophy R1
253600
CRB1
17p13.1
Leber congenital amaurosis
204000
GALNS
16q24.3
Mucopolysaccharidosis type 4A
253000
OTOF
2p23.3
Autosomal recessive non-syndromic sensorineural deafness type DFNB
601071
SAG
2q37.1
Retinitis pigmentosa 47
613758
TMPRSS3
21q22.3
Deafness, autosomal recessive 8/10
601072
TSHR
14q31.1
Hyperthyroidism
603373
The 600 recessive disorders detected by the Genetic Compatibility Test (GCT)
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