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Follow-up testing is recommended to confirm diagnosis of mucopolysaccharidosis (MPS)
As a multisystemic and progressive disorder with diverse presentations, prompt diagnosis of MPS is required for optimal patient outcomes.1-4 Sometimes, follow-up testing is needed after genetic testing to confirm diagnosis. In a review of Morquio A diagnoses, standard genetic testing failed to identify a second disease-causing GALNS mutation in 16% of cases.5
Confirming an MPS diagnosis
You recently used the Discover DysplasiasTM skeletal dysplasia panel to screen one of your patients. While the test results were suggestive of MPS, we were unable to confirm diagnosis. A follow-up single-enzyme test is required to confirm MPS. The test will be processed through Greenwood Genetic Center (GGC), not Invitae, and is provided by BioMarin at no charge for eligible patients. A new blood sample is required.
Genetic Testing
Used the Discover DysplasiasTM test kit for molecular testing
Inconclusive Results
Received inconclusive results indicative of MPS
Follow-up Testing
Confirm diagnosis with single-enzyme activity testing
What happens next?
Your office orders a single-enzyme test kit below
You collect the blood sample from patient and return to GGC laboratory
You receive results from GGC laboratory in approximately 2-3 weeks
Questions? Please contact us at discoverdysplasias@bmrn.com for more information.
Please submit the following form to request a follow-up single-enzyme test kit to collect a new blood sample from your patient:
References: 1. Akyol MU, Alden TD, Amartino H, et al. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):137. doi:10.1186/s13023-019-1074-9 2. Akyol MU, Alden TD, Amartino H, et al. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019;14(1):118. doi:10.1186/s13023-019-1080-y 3. Hendriksz CJ, Berger KI, Giugliani R, et al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015;167A:11-25. doi:10.1002/ajmg.a.36833 4. Bhattacharya K, Balasubramaniam S, Choy YS, et al. Overcoming the barriers to diagnosis of Morquio A syndrome. Orphanet J Rare Dis. 2014;9:192. doi:10.1186/s13023-014-0192-7 5. Caciotti A, Tonin R, Rigoldi M, et al. Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations. Hum Mutat. 2015;36(3):357-368. doi:10.1002/humu.22751.