BRAIN MALFORMATION (BMF)

Brain malformation is a common term for conditions in which the brain has not formed properly during pregnancy. Most of these problems in brain structure are associated with neurological and developmental problems. Amplexa Genetics performs genetic tests to establish the cause, etiology, and mechanism of the disease, and thereby allow a more targeted treatment.

 
The current panel is updated and consists of 821 genes which are associated with brain malformations.

TESTSPECIFICATIONS

The analysis is limited to small indels and polymorphisms in coding regions including 10 bp from exon-intron boundaries including splice sites. Rare or low frequency variants are evaluated according to the ACMG guidelines (Richards et al, Genet Med. 2015, May;17(5):405-24), as well as individual estimates.

Chemistry: Twist Biosystems Human Core Exome

Hardware: Illumina Novaseq 6000 Sequencer

Data processing: Variant calling and filtering is performed with an in-house bioinformatic pipeline.

Metrics: Average read depth >100-fold. On target coverage >97% at a ≥20-fold read depth.