Hypoparathyrodism – HoPT8
This panel is developed for use in cases where hyperparthyrodism is suspected. The genes in the panel are reletad to the following phenotypes, Hypoparathyroidism, Autosomal Dominant – Autoimmune Polyendocrine Syndrome, type I, with or without reversible metaphyseal dysplasia – Hypoparathyroidism,familial isolated – Hypoparathyroidism, sensorial deafness, andrenal disease – Pseudohypoparathyroidism, type IB – Pseudohypoparathyroidism, type IA -Pseudopseudohypoparathyroidism
The current version includes 8 genes
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.
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.