Ataxia
Ataxia & Movement Disorders
The ataxia panel covers 205 genes related to several forms of ataxia and related movement disorders.
Genes list
Name | OMIM | Inheritance |
---|---|---|
Test specifications
The test is performed as data extract (virtual targeted panel) from whole exome data.
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.
Terms.
By ordering an analysis at Amplexa Genetics A/S, the requester confirms to have obtained the necessary informed consent for the performance of the requested analyses, and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition or an e-mail stating the specific analysis together with the receipt of a sample is considered an order to conduct the analysis.
From the day of order receipt the turn around time is 5 weeks.