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CGT Bank

The Igenomx carrier screening for egg banks.

It includes the analysis of common genes as recommended by the SEF/ASEBIR plus the detection of the risk associated with mutations in X-linked genes.

The disaggregation of genes included in CGT Bank is:

1. Analysis of 7 common genes in monogenic diseases (according to SEF/ASEBIR recommendation, corresponds to CGT Basic)

RECESSIVE (6)

  • CFTR – Cystic Fibrosis (NGS)
  • HBA1/HBA2 – Alpha Thalassemia (complementary test, long PCR)
  • HBB – Beta Thalassemia (NGS)
  • GJB2 – Hereditary deafness, autosomal recessive (NGS)
  • SMN1 – Spinal muscular atrophy (complementary test, qPCR)

X-CHROMOSOME-LINKED (1)

  • FMR1 – Fragile X syndrome (complementary test, Triple-primed PCR)
2. NGS analysis of 27 genes linked to the X chromosome (see table)

To complement the CGT Basic study, 27 additional genes linked to the X chromosomes are included. The goal is to identify possible candidates to be positive donors for any of these genes and avoid the direct risk of 25% of having males with any of the diseases listed above and in the attached table. 

Version 1.0

GeneDisease
ABCD1Adrenoleukodystrophy
ARAndrogen insensitivity syndrome, complete
ARSEChondrodysplasia punctata, brachytelephalangic
ATP7AMenkes disease; Occipital horn syndrome
BTKAgammaglobulinemia X-linked, type 1
CD40LGHyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)
CFTRCystic fibrosis
CHMChoroideremia
CYBBChronic granulomatous disease, X-linked
EDAEctodermal dysplasia, type 1, hypohidrotic, X-linked
EMDEmery-Dreifuss muscular dystrophy, type 1, X-linked
F8Hemophilia A
F9Hemophilia B
FMR1Fragile X syndrome
G6PDHemolytic anemia, G6PD deficient (favism)
GJB2Deafness, autosomal recessive, type 1A
GLAFabry disease
GPR143Ocular albinism, type 1 (Nettleship-Falls type)
HBA1Thalassemia, alpha-
HBA2Thalassemia, alpha-
HBBHBB-related hemoglobinopathy
IDSMucopolysaccharidosis, type 2
IL2RGSevere combined immunodeficiency, X-linked
L1CAML1 Syndrome
MECP2Encephalopathy, neonatal severe
MTM1Myotubular myopathy, X-linked
NR0B1Adrenal hypoplasia, congenital
OCRLLowe Syndrome; Dent disease type 2
OTCOrnithine transcarbamylase deficiency
PDHA1Pyruvate dehydrogenase E1-alpha deficiency
SH2D1ALymphoproliferative syndrome, X-linked, type 1
SLC6A8Cerebral creatine deficiency syndrome, type 1
SMN1Spinal muscular atrophy
WASWiskott-Aldrich syndrome; Thrombocytopenia, X-linked
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