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Parathyroidism

Parathyroidism

Our thyroidism panels are designed for patients where hypo- or hyper-parathyroidism is suspected. The parathyroid gland produces hormones that regulate the level of calcium and phosphorus in the body. Hyper-parathyroidism is a disorder where the parathyroid gland produce too much hormone, while hypo-parathyroidism is caused by too little hormone production. Our panels contain critical genes for the particular disorder and are clinically relevant.

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

Hypo-parathyroidism

We offer two panels that are relevant if hypo-parathyroidism is suspected. Hypo-parathyroidism is commonly caused when insufficient parathyroid hormone (PTH) is released from the parathyroid glands. The disorder is characterized by hypocalcemia and hyperphosphatemia.

The hypo-parathyroid panel is available as a standard or extended panel. The standard panel contains four genes, PTH, AIRECaSR and GNA11.

The extended panel contains an additional four genes: GATA3, GCM1, GCM2 and STX16.

These panels are designed to be used if the either of the following phenotypes are presented:

Hypoparathyroidism, Autosomal Dominant ✚ Autoimmune Polyendocrine ✚ Syndrome, type I, with or without reversible metaphyseal dysplasia ✚ Hypoparathyroidism, familial isolated ✚ Hypoparathyroidism, sensorial deafness, and renal disease ✚ Pseudohypoparathyroidism, type IB ✚ Pseudohypoparathyroidism, type IA ✚ Pseudopseudohypoparathyroidism

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.

Hyper-parathyroidism

Hyper-parathyroidism is caused by an increase in the production of parathyroid hormone (PTH). This hormone regulate the level of calcium and phosphorous in the body. Symptoms range from mild to severe and may include osteoporosis, kidney stones, excessive urination, abdominal pain, fatigue, depression, nausea, bone and joint pain.

We offer a standard and an extended hyper-parathyroidism panel. The standard panel contains five genes commonly found mutated in hyper-parathyroidism cases (MENIN, RET, CDC73, CaSR, AIP). The extended panel contains an additional 3 genes (CDKN1b, GCM2, AP2S1), that are linked to the condition. The panel is frequently evaluated and updated.

Test specifications

The test is performed as data extract (virtual targeted panel) from whole exome data.

  • Chemistry: Twist Biosystems custom panel
  • Hardware: Illumina Novaseq 6000 Sequencer
  • Data processing: Variant calling and filtering is performed with an in-house bioinformatic pipeline.
  • Metrics: Average read depth >1000-fold. On target coverage ~100%. With >1000-fold read depth mosaicism down to a 1% level can be detected.

 

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.

Pseudohypo-parathyroidism

This panel contains a single locus, GNAS. The locus gives rise to several different transcripts through different promoters and alternative splicing, including Gs-alpha, XLAS, NESP55 and the A/B transcript. Pseudohypo-parathyroidism (PHP) og psedupseudohypo-parathyroidism (PPHP) arise from mutations in this locus. Both PHP and PPHP is a result from loss of function of the Gs-alpha protein. The disorder may arise from a mutation in the locus, however, there is a chance that the cause is an epigenetic pertubation. Currently, the test can only detect genetic variations and not the epigenetic ones.

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.