New enzyme assay for Morquio disease :: EXTAN® kits :: Case statistics
New enzyme assay for Morquio disease
Centogene is proud to announce the development of the first tandem-mass-spectometry based specific enzyme test for Morquio disease (MPS4a). Morquio is a rare autosomal recessive inherited enzyme (GALNS, Galactosamine (N-acetyl)-6-sulfate sulfatase) defect that is estimated to occur in
one of every 140,000 births. There are two types of Morquio syndrome: Type A, in which an enzyme called galactosamine-6-sulfatase (GALNS) is missing; and type B, with a defect of the enzyme beta-galactosidase.
Symptoms of Morquio syndrome usually begin between ages 1 and 3 and typically include:
short stature, abnormal bone and spine development, hypermobile joints, widely-spaced teeth, coarse facial features, and possible heart and vision problems.
The diagnosis, especially in the early phase of the disease, is not easily done and is based on clinical parameters, enzymatic analysis, or genetic testing.
Centogene has developed a unique, precise, and stable tandem-mass-spectometry based enzyme test for GALNS deficiency usable also with Centogene´s proprietary filtercard (CentoCard). Using DBS (dry blood spots) for the quantitative determination of GALNS (galactosamine (N-acetyl)-6-sulfate sulfatase) activity, and after an adequate drying phase of DBS (for details, please download our general instructions for CentoCard), the enzyme is stable for at least 2 weeks and can be shipped at regular room temperature (for sample preparation and storage details, please contact us directly).
CentoCard can also be used in the next step of the genetic confirmation of GALNS deficiency without the need to send in another patient sample.
The sensitivity and specificity of the enzyme test is > 99.5%.
News on genes & panels
Updated test portfolio
Centogene has recently added new single gene tests and NGS panels to its portfolio, constantly following the most actual scientific developments. Our NGS panel composition always reflects the clinical relevance to the specific disease phenotype, processed with a standardized quality scheme and internal controls.
New NGS panels
- Pontocerebellar hypoplasia panel (CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A)
- Neurofibromatosis panel (NF1, NF2)
- Heterotaxy panel (ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, NKX2-5, NODAL, ZIC3)
- Surfactant metabolism dysfunction panel (ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD)
- Hemophagocytic Lymphohistiocytosis panel (PRF1, UNC13D, STX11, STXBP2)
- Metaphyseal dysplasia panel (ANKH, CDKN1C, FLNA, MMP9, MMP13, NKX3-2, RMRP, RUNX2)
Extended NGS panels
- Pantothenate kinase-associated neurodegeneration panel (ATP13A2, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45)
- Diabetes neonatal panel (ABCC8, FOXP3, G6PC2, GCK GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1)
- Nephronophthisis panel (NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, ZNF423)
- Early infantile epileptic encephalopathy panel (ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A, KCNQ2, KCNT1, ARHGEF9, PCDH19, PNKP, SCN2A, SCN8A, PLCB1)
- Thrombocytopenia panel (ADAMTS13, GATA1, GP1BA, GP1BB, GP9, ITGA2B, ITGB3, MASTL, MYH9, MPL, RUNX1, WAS)
Centogene is pleased to introduce its new product line, EXTAN®.
What is Extan®?
- An extensively validated CE labeled in vitro diagnostic kit for a broad spectrum of diagnostically relevant genes
- A set of bidirectional primers with controls to sequence the entire coding region
- An affordable solution to rapidly and reliably expand your test portfolio
EXTAN® kits are an affordable solution to allow laboratories worldwide to rapidly increase their test portfolio using a validated set of primers, controls and protocols.
To find out more about the advantages of using EXTAN®, please download our brochure, visit our website or contact extan(at)centogene(dot)com.
Statistics on confirmed cases/carriers up to June 2014
Centogene is pleased to present its analysis from January 2012 to June 2014 of diagnosed cases (download pdf). In that period, Centogene has confirmed more than 4,900 cases.
Elucidating the basis for the link between the clinical phenotype and genotype correlation, and the factors contributing to reveal disease frequency, provide new insights into the genetics, pathophysiology and therapeutic options available for rare diseases. Analyzing samples from over 90 countries worldwide allows us to understand ethnic differences that are important for a comprehensive test interpretation.
At Centogene, we are committed to helping you with your medical needs.
If you have any questions or comments, please do not hesitate to contact us.
Senior Director Strategic Communication