Skeletal Dysplasia

Disease/Condition(s): skeletal dysplasia

What is Skeletal Dysplasia?

Skeletal dysplasia is a group of disorders characterized by abnormalities in the development, growth, and maintenance of the bones and cartilage. These conditions often result in variations in the shape and size of the limbs, spine, and skull, leading to short stature and a range of orthopedic and physical challenges. The severity and specific manifestations can vary widely among individuals, with over 400 distinct types identified, each with its own genetic causes and clinical symptoms. Diagnosis typically involves clinical evaluation, radiographic imaging, and genetic testing to identify the specific type of dysplasia and guide treatment options.

Most skeletal dysplasias have a genetic component:

92% of skeletal dysplasias have an identified molecular basis.⁶
Identifying the underlying genetic cause of a skeletal dysplasia is important, as each case might be managed differently.³
Delayed or incomplete diagnoses can result in less-optimal patient outcomes, including potential surgical risks.^1,3

Skeletal Dysplasia Sponsored Testing Program Overview:

Discover Dysplasias™

What is the role of testing for Skeletal Dysplasia?

Genetic testing plays a crucial role in the diagnosis, management, and understanding of skeletal dysplasias. Given the extensive variety of skeletal dysplasia types, each with potentially unique genetic mutations, identifying the specific genetic cause is essential for an accurate diagnosis. This precision is important not only for confirming the type of dysplasia but also for guiding treatment plans, informing prognostic expectations, and advising on potential familial inheritance and risks for future pregnancies. Moreover, genetic testing can aid researchers and clinicians in better understanding the underlying mechanisms of these disorders, which can lead to advances in treatments and possibly preventative strategies.

What is the Program?

The Discover Dysplasias™ sponsored testing program can help facilitate diagnosis for some of the most common causes of skeletal dysplasias and, in some cases, put your patients on the path to disease-specific management sooner.^1-5

Program Eligibility

This program is available to patients age 2 years or older in the US and Canada with signs or symptoms suggestive of, or consistent with, a diagnosis of skeletal dysplasia. Patients must have at least one of the following:

Skeletal abnormalities suggestive of skeletal dysplasia
Short stature and/or disproportionate growth
Dysmorphic facial features
Fractures and/or pseudofractures
Other signs or symptoms suggestive of skeletal dysplasia

Testing

How to participate

Choose between the following testing options:

Invitae

Invitae Skeletal Disorders Panel

Genes Evaluated: ACAN, ACP5, ACVR1, ADAMTS10, ADAMTS17, AFF4, AGA, AGPS, AIFM1, ALPL, AMER1, ANKH, ANO5, ARCN1, ARSB, ARSE, ASCC1, ASPM, ATR, ATRIP, B3GALT6, B3GAT3, B4GALT7, BGN, BMP1, BMP2, BMPER, BMPR1B, C2CD3, CA2, CANT1, CASR, CCDC8, CDC45, CDC6, CDK5RAP2, CDKN1C, CDT1, CENPJ, CEP120, CEP135, CEP152, CEP63, CEP97, CFAP410, CHST14, CHST3, CHUK, CLCN5, CLCN7, COG1, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREB3L1, CRIPT, CRTAP, CSF1R, CSGALNACT1, CSPP1, CTNS, CTSA, CTSK, CUL7, CWC27, CYP27B1, CYP2R1, DDR2, DDRGK1, DHCR24, DIP2C, DLL1, DLL3, DLX3, DMP1, DMRT2, DNA2, DNMT3A, DONSON, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EIF2AK3, ENPP1, ESCO2, EVC, EVC2, EXOC6B, EXOSC2, EXT1, EXT2, EXTL3, FAH, FAM111A, FAM20C, FAM46A, FAR1, FAT4, FBN1, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FN1, FTO, FUCA1, FZD2, GALNS, GALNT3, GDF5, GDF6, GHR, GHRHR, GHSR, GJA1, GLB1, GMNN, GNAS, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GSC, GUSB, GZF1, HES7, HGSNAT, HPGD, HSPG2, HYAL1, IARS2, ICK, IDS, IDUA, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, IGF1, IGF2, IHH, IMPAD1, INPPL1, INTU, JAG1, KAT6B, KIAA0586, KIAA0753, KIF22, KL, KMT2A, LARP7, LBR, LEMD3, LFNG, LIFR, LIG4, LMNA, LMX1B, LONP1, LOXL3, LRP4, LRP5, LRRK1, LTBP2, LTBP3, MAFB, MAN2B1, MANBA, MAP3K7, MATN3, MBTPS1, MBTPS2, MCM5, MCPH1, MEOX1, MESDC2, MESP2, MGP, MMP13, MMP14, MMP2, MMP9, MNX1, MSX2, MYH3, MYO18B, NAGLU, NANS, NBAS, NEK1, NEU1, NIN, NKX3-2, NOG, NOTCH2, NPPC, NPR2, NPR3, NSDHL, NSMCE2, NTRK1, NXN, OBSL1, OCRL, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PCGF2, PCNT, PCYT1A, PDE4D, PEX5, PEX7, PGM3, PHEX, PIK3C2A, PISD, PKDCC, PLK4, PLOD2, PLS3, POC1A, POLR1A, POP1, POR, PPIB, PPP3CA, PRKAR1A, PTDSS1, PTH1R, PTHLH, PTPN11, PYCR1, RAB33B, RBBP8, RECQL4, RIPPLY2, RMRP, RNU4ATAC, ROR2, RSPO2, RSPRY1, RTTN, RUNX2, SC5D, SEC24D, SERPINF1, SERPINH1, SETBP1, SFRP4, SGMS2, SGSH, SH3PXD2B, SLC17A5, SLC26A2, SLC29A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD4, SMARCAL1, SNRPB, SNX10, SOX9, SP7, SPARC, SQSTM1, SRCAP, SUCO, SULF1, SUMF1, TAB2, TAPT1, TBCE, TBX15, TBX3, TBX5, TBX6, TBXAS1, TCIRG1, TCTEX1D2, TCTN3, TGFB1, TMEM165, TMEM38B, TNFRSF11A, TNFRSF11B, TNFSF11, TONSL, TRAF3IP1, TRAIP, TRAPPC2, TREM2, TRIM37, TRIP11, TRIP4, TRMT10A, TRPS1, TRPV4, TTC21B, TUBGCP4, TUBGCP6, TYROBP, UBE3B, VAC14, VDR, VPS33A, WDR19, WDR34, WDR35, WDR4, WDR60, WISP3, WNT1, WNT3, WNT3A, WNT5A, XRCC4, XYLT1, XYLT2, ZMPSTE24, ZNF687

How To Order

Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge from the US and Canada.

Order Here

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More Information About This Program

Patients that meet the eligibility criteria may receive one test at no cost.
No patients, providers, and/or third-party payers (including commercial health plans and government health care programs) will be billed for the testing covered under the program.
The ordering physician will not receive any fees or other compensation in connection with the Sponsored Testing Program, such as for specimen collection, handling, or data reporting.
Patients meeting the above eligibility criteria, as well as their treating health care providers, are not required to order, purchase, prescribe, and/or obtain any other product or service from sponsor, the labs or any of their affiliates.
The performing labs reserve the right to rescind, revoke, or amend the program for any reason without notice.
Program is not valid where prohibited by law.
No identifiable patient data will be shared with sponsor as part of this program.

About BioMarin

Founded in 1997, BioMarin is a global biotechnology Company dedicated to transforming lives through genetic discovery. The Company develops and commercializes targeted therapies that address the root cause of the genetic conditions. BioMarin’s unparalleled research and development capabilities have resulted in eight transformational commercial therapies for patients with rare genetic disorders. The Company’s distinctive approach to drug discovery has produced a diverse pipeline of commercial, clinical, and pre-clinical candidates that address a significant unmet medical need, have well-understood biology, and provide an opportunity to be first-to-market or offer a substantial benefit over existing treatment options. For additional information, please visit www.biomarin.com.

About VOXZOGO®

VOXZOGO® (vosoritide) is a therapeutic injection developed by BioMarin Pharmaceutical Inc. for improving growth in children aged five years and older with achondroplasia, the most common form of dwarfism. Achondroplasia is caused by a genetic mutation leading to overly active fibroblast growth factor receptor 3 (FGFR3), which hinders bone growth. VOXZOGO works by binding to the natriuretic peptide receptor-B, reducing FGFR3 activity and promoting bone growth. Clinical trials demonstrated a significant increase in growth velocity among treated children compared to placebo.

About Ipsen

Ipsen is a global, mid-sized biopharmaceutical company focused on transformative medicines in Oncology, Rare Disease and Neuroscience. With total sales of €3.0bn in FY 2022, Ipsen sells medicines in over 100 countries. Alongside its external-innovation strategy, the Company’s research and development efforts are focused on its innovative and differentiated technological platforms located in the heart of leading biotechnological and life-science hubs: Paris-Saclay, France; Oxford, U.K.; Cambridge, U.S.; Shanghai, China. Ipsen has around 5,000 colleagues worldwide and is listed in Paris (Euronext: IPN) and in the U.S. through a Sponsored Level I American Depositary Receipt program (ADR: IPSEY). For more information, visit ipsen.com

References

1. Nikkel SM. Skeletal dysplasias: what every bone health clinician needs to know. Curr Osteoporos Rep. 2017;15(5):419-424.
2. Jelin AC, O’Hare E, Blakemore K, Jelin EB, Valle D, Hoover-Fong J. Skeletal dysplasias: growing therapy for growing bones.Front Pharmacol. 2017;8(79):1-6.
3. Krakow D. Skeletal dysplasias. Clin Perinatol. 2015;42(2):301-319.
4. Zanelli SA. Skeletal dysplasia. In: Rohena LO, chief ed. Pediatrics: Genetics and Metabolic Disease. https://emedicine.medscape.com/article/943343-overview. Updated September 28, 2018. Accessed March 3, 2021.
5. Data on file. Novato, CA: BioMarin Pharmaceutical Inc.
6. Mortier GR, Cohn DH, Cormier-Daire V, et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet. 2019;179(12):2393-2419. doi:10.1002/ajmg.a.61366.
7. Lavery C, Hendriksz C. Mortality in patients with Morquio syndrome A. JIMD Rep. 2015;15:59-66. doi:10.1007/8904_2014_298.
8. Souza CFM, Siqueira AC, Antunes NS, et al. Perthes-like disease masquerading as non-classical MPS.J Inborn Errors Metab Screen. 2020;8(e20200003):1-11. doi:10.1590/2326-4594-JIEMS-2020-0003.