LBG-1500 Expanded Genetic Compatibility Test. Preconception genetic study of carriers of recessive diseases. Individual study.
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
"1. Simultaneous analysis of 1,500 genes associated with recessive and X-linked inheritance diseases, with an on-target coverage greater than 99%, through CLINICAL EXOME.
2. Fragile X syndrome: PCR-Screening of the CGG triplet expansion of the FMR1 gene
3. Spinal Muscular Atrophy (SMA): MLPA analysis of the deletion of exons 7 and 8 of the SMN1 gene, including copy number of the SMN2 gene.
4. Friedreich's ataxia: FXN gene GAA triplet expansion analysis (FRDA) + TP-PCR
5. Alpha-Thalassemia: MLPA analysis of deletions/duplications in the HBA1 and HBA2 genes
6. Congenital Adrenal Hyperplasia: Specific sequencing of the CYP21A2 gene versus its pseudogene and analysis of deletions/duplications by MLPA.
7. Secondary findings: Analysis of the genes that the ACMG recommends reporting for secondary findings"
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