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Bone Disorders

Bone Disorders

Our bone disorder panels are developed to target two aspects of bone malformation, and contain high impact genes making the panels clinically relevant. Osteogenesis imperfecta is relevant for patients with fragile bones while osteopetrosis is a disorder that causes bones to harden.

Amplexa Genetics currently offers three targeted Next Generation Sequencing (tNGS) panels. Select the area of interest in the tabs here below.

Osteogenesis Imperfecta

Osteogenesis Imperfecta (OI), is characterized by improper bone formation, leading to fragile bones that break easily. OI is often accompanied by discoloration of the sclera of the eyes. There are 20 types of OI described with varying genetic causes.

We offer two panels for OI, a standard and an extended panel. The standard panel focuses on the two central genes in the most common disorder, COL1A1 and COL1A2. OI type I-IV is caused by heterozygous mutation is one of those two genes. Around 90% of OI cases are due to a mutation in one of these two loci. Our Extended panel contains the same two collagen genes, as well as 13 other genes related to the remaining types of OI.

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.

Osteopetrosis

This panel is developed for use in cases where osteopetrosis is suspected. Osteopetrosis is an extremely rare disease in which bones harden and become more dense. The disease is described in several different types with various underlying genetic causes. Depending on the cause, it can be inherited both recessively and dominant.

The panel is frequently evaluated and updated. 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

Accreditation

ISO 15189 accredited test

This test is DS/EN ISO 15189:2013 accredited under DANAK exam number 1023.