exome sequencing

Bed files in Next Generation Sequencing

What are the bed files? If you are interested, or directly involved, in Next Generation Sequencing applications for research or clinical diagnostics, especially in whole exome sequencing or targeted multigene panel testing, you’ve certainly heard of the so-called bed files. If you haven’t heard of them yet, you’ll soon need to learn what they are

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Non-coding exons in the diagnosis of rare disorders

Coding and non-coding exons in the genes structure Genes are the coding part of the genome and represent only 2% of the entire DNA chain. Despite this, the vast majority of pathogenic mutations causing rare disorders (up to 85%) falls right in the genes.  Genes have a well-defined structure: they are made up of exons,

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Mental Retardation 5 (MRD5 – SYNGAP1 gene mutations)

Recommended testing for this condition at Breda Genetics: Single gene testing based on exome sequencing (SYNGAP1 gene). If negative: upgrade to full exome data analysis. Summary SYNGAP1 gene mutations have been associated with autism or autism spectrum disorders, nonsyndromic intellectual disability, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. The condition caused

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Albinism & Hermansky–Pudlak syndrome

Recommended panel testing at Breda Genetics for this condition: Albinism & Hermansky-Pudlak syndrome (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MLPH, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1) What is the skin and hair color like? Oculocutaneous albinism is characterized by hypopigmentation of the skin and hair (including brows and lashes) and

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