GTR Home > Tests > Spondyloenchondrodysplasia with immune dysregulation


Test order codeHelp: 1723

Test name


Spondyloenchondrodysplasia with immune dysregulation

Purpose of the test


This is a clinical test intended for Help: Diagnosis



1 condition tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
PCR with allele specific hybridization
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 gene and variant. Click Methodology tab for more information.


  • Gene: ACP5 (19p13.2)

Clinical validity


This gene test will provide the likelihood of clinical outcome for tested individuals, and it is primarily determined by the quality of clinical features used to select affected individuals suggested for genetic testing. The likelihood of clinical outcome is affected not only by the presence of the gene mutation itself but also by any other modifying factors that might affect the penetrance of the mutation (e.g., the mutation carrier's environmental exposures or personal behaviors) or by the presence or absence of mutations in other genes related to the disease. For this reason, the clinical validity of this particular genetic test for a specific mutation may vary in different populations. For the molecular diagnostic of the disease caused by mutations in this gene, Centogene is offering hotspot testing, including mutations specific for various world populations, full gene sequencing and deletion/duplication testing, enabling identification of all previously reported mutations, as well as possible detection of other genetical changes.


Not provided

Clinical utility


Establish or confirm diagnosis

  • ACP5 gene test improves health outcome and the likelihood that the improved outcome will occur, and it should be considered when evaluating interventions, therapy selection and overall patient management. Genetic information may lead clinicians to consider changes in their approach to clinical management, based on expert opinion, in the absence of proof of clinical utility.

How to order


Order URL Help:

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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