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
| Gene | Disease |
|---|---|
| ABCD1 | Adrenoleukodystrophy |
| AR | Androgen insensitivity syndrome, complete |
| ARSE | Chondrodysplasia punctata, brachytelephalangic |
| ATP7A | Menkes disease; Occipital horn syndrome |
| BTK | Agammaglobulinemia X-linked, type 1 |
| CD40LG | Hyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1) |
| CFTR | Cystic fibrosis |
| CHM | Choroideremia |
| CYBB | Chronic granulomatous disease, X-linked |
| EDA | Ectodermal dysplasia, type 1, hypohidrotic, X-linked |
| EMD | Emery-Dreifuss muscular dystrophy, type 1, X-linked |
| F8 | Hemophilia A |
| F9 | Hemophilia B |
| FMR1 | Fragile X syndrome |
| G6PD | Hemolytic anemia, G6PD deficient (favism) |
| GJB2 | Deafness, autosomal recessive, type 1A |
| GLA | Fabry disease |
| GPR143 | Ocular albinism, type 1 (Nettleship-Falls type) |
| HBA1 | Thalassemia, alpha- |
| HBA2 | Thalassemia, alpha- |
| HBB | HBB-related hemoglobinopathy |
| IDS | Mucopolysaccharidosis, type 2 |
| IL2RG | Severe combined immunodeficiency, X-linked |
| L1CAM | L1 Syndrome |
| MECP2 | Encephalopathy, neonatal severe |
| MTM1 | Myotubular myopathy, X-linked |
| NR0B1 | Adrenal hypoplasia, congenital |
| OCRL | Lowe Syndrome; Dent disease type 2 |
| OTC | Ornithine transcarbamylase deficiency |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency |
| SH2D1A | Lymphoproliferative syndrome, X-linked, type 1 |
| SLC6A8 | Cerebral creatine deficiency syndrome, type 1 |
| SMN1 | Spinal muscular atrophy |
| WAS | Wiskott-Aldrich syndrome; Thrombocytopenia, X-linked |
