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Hypoparathyroidism

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

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.

Accreditation

This test is not part of the accredited workflow.