FANCONI ANEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 26 genes
Delivery time
3-4 weeks
Sample
Blood
The Fanconi Anemia panel analyzes 26 genes involved in this inherited syndrome of bone marrow failure with progressive pancytopenia, congenital malformations, skin hyperpigmentation, and a predisposition to hematological malignancies. Mutations in genes of the DNA repair system cause cellular hypersensitivity to genomic damage and the accumulation of chromosomal breaks. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, genes involved in the homologous recombination pathway and genomic maintenance are evaluated, including FANCA, FANCC, FANCG, FANCL, BRCA1, BRCA2, PALB2, RAD51, and FANCM. This analysis allows for a comprehensive approach to the molecular causes of chromosomal instability syndromes and differentiates classic Fanconi forms from phenotypically overlapping entities. The complete list of genes can be obtained by contacting Genotica.
Other tests
Exome panel analysis of 29 genes - idiopathic pulmonary fibrosis and surfactant protein deficiency
990,00€
511 gene analysis - epilepsy (using exome sequencing)
1.495,00€
Exome analysis of AGXT, GRHPR, and HOGA1 genes - primary hyperoxaluria
690,00€