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GTR Home > Tests > CentoMetabolic MOx

CentoMetabolic MOx

  • GTR Test IDHelp: GTR000600670.1
  • Last updated: 2022-11-02
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Mucopolysaccharidosis
Offered by Centogene AG - the Rare Disease Company

Indication

This is a clinical test intended for Help: Diagnosis, Pre-symptomatic, Screening

Clinical summary

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A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. [from NCI]

Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

Not provided

Clinical utility

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Not provided

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.