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Rickets

Rickets

Hypophosphatemic rickets is a form of rickets (distinct of nutritional rickets) that is characterized by low serum phosphate levels and resistance to treatment with ultraviolet radiation or vitamin D ingestion.

Our rickets panel covers several types of hypophosphatemic rickets: Hypophosphatemic Rickets, Hypophosphatemic rickets (X-linked dominant), Hypophosphatemic rickets (autosomal dominant), Hypophosphatemic rickets (AR), Hypophosphatemic rickets (with Hypercalciuria), Hypophosphatemic rickets, Vitamin D-Dependent Rickets Type I, Vitamin D-Dependent Rickets Type IIA, Rickets Due to Defect in Vitamin D-25 Hydroxylation.

The current version includes 9 genes

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.