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Disorders that involve the skeleton can result from numerous causes including age-
related processes (e.g. senile osteoporosis), hormonal imbalances (e.g.
postmenopausal osteoporosis and hyperparathyroidism-related bone loss), and
developmental (mostly inherited) anomalies of the bone (e.g. achondroplasia).
These developmental disorders of bone are rare and have a collective incidence of 1 in
5000 births and can be categorized into: dysostoses (malformations of single skeletal
elements), disruptions (malformations of bones due to nonskeletal causes), skeletal
dysplasia (developmental disorders that involve bone and/ or cartilage), and osteolyses
(dissolution of preexisting bone).
Genetic forms of skeletal disorders are rare, and heterogeneous in their presentations
and etiologies. the International Skeletal Dysplasia Society identified over 436
conditions and categorized them into more than 40 groups based on molecular,
biochemical, and/or radiographic criteria. Overall, there are 336 genes that have been
identified to cause 436 disorders. Systematic assessment based on the site, severity, and nature of involvement can lead to the diagnosis in many genetic disorders of the bone without the further need for confirmatory molecular testing (e.g. achondroplasia). However, many a time, the diagnosis is not apparent, and further molecular tests may be necessary.
Ideal candidates are patients with the following symptoms or conditions:
Currently, numerous gene panels are available for clinical diagnosis of a wide range of
genetic skeletal disorders (genetic testing registry http://www.ncbi.nlm.nih.gov/gtr/ and
GeneTests https://www.genetests.org). These range from large panels of over 150
genes for diagnosis of “many forms of skeletal dysplasia,” to panels of over 50 genes for
diagnosis of “disproportionate short stature,” to assays that aim to assist in diagnoses of
focused phenotypes like “osteogenesis imperfecta”, “low bone mass”, “osteopetrosis”,
high bone mass”, and “Stickler syndrome”, amongst others.
Please reach us at contact@genatechs.com if you cannot find the tests you are seeking.
Genetic testing has allowed gene identification in more than two thirds of the skeletal dysplasias. This panel may be appropriate for anyone with a personal or family history of a clinical diagnosis of SD or unexplained skeletal abnormalities. Individuals with a history of spine problems, asymmetric bone growth, or frequent bone fractures may benefit from testing.
Genes in the panel: ACAN, ACP5, ACVR1, ADAMTS10, ADAMTSL2, AGPS, ALPL,
ALX3, ALX4, AMER1, ANKH, ANO5, AP2S1, ARHGAP31, ARSE, ATP6V0A2, ATR,
B3GALT6, B4GALT7, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, CA2, CANT1, CASR,
CC2D2A, CCDC8, CDC6, CDH3, CDKN1C, CDT1, CENPJ, CEP152, CEP290, CEP63,
CHST14, CHST3, CHSY1, CLCN5, CLCN7, COL10A1, COL11A1, COL11A2, COL1A1,
COL1A2, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRTAP, CTSK, CUL7,
CYP27B1, CYP2R1, DDR2, DHCR24, DHCR7, DLL3, DLX3, DMP1, DNA2, DVL1, DVL3,
DYM, DYNC2H1, EBP, EFNB1, EIF2AK3, ENPP1, EP300, ERF, ESCO2, EVC, EVC2,
EXT1, EXT2, EZH2, FAM111A, FAM20C, FAM58A, FBLN1, FBN1, FERMT3, FGF10,
FGF16, FGF23, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNA, FLNB, FREM1,
GALNT3, GDF3, GDF5, GDF6, GJA1, GLI3, GNA11, GNAS, GNPAT, GORAB, GPC6,
GSC, HDAC4, HES7, HOXA11, HOXD13, HPGD, HSPG2, IARS2, ICK, IFITM5, IFT122,
IFT140, IFT172, IFT43, IFT80, IHH, IL11RA, IMPAD1, INPPL1, KIF22, KIF7, LARP7, LBR,
LEMD3, P3H1, LFNG, LIFR, LMBR1, LMNA, LMX1B, LRP4, LRP5, MAFB, MATN3,
MEGF8, MEOX1, MESP2, MGP, MKS1, MMP13, MMP2, MMP9, MSX2, MTAP, MYCN,
NEK1, NFIX, NIN, NIPBL, NKX3-2, NOG, NOTCH2, NPR2, NSDHL, OBSL1, OFD1,
ORC1, ORC4, ORC6, OSTM1, PAPSS2, PCNT, PCYT1A, PDE4D, PEX7, PHEX, PIGV,
PITX1, PLEKHM1, PLOD2, PLS3, POC1A, POR, PPIB, PRKAR1A, PTDSS1, PTH1R,
PTHLH, PTPN11, PYCR1, RAB23, RAB33B, RASGRP2, RBBP8, RECQL4, RMRP,
RNU4ATAC, ROR2, RPGRIP1L, RUNX2, SALL1, SALL4, SBDS, SERPINF1, SERPINH1,
SF3B4, SH3PXD2B, SHH, SHOX, SKI, SLC25A12, SLC26A2, SLC34A1, SLC34A3,
SLC35D1, SLC39A13, SLC9A3R1, SLCO2A1, SMARCAL1, SNX10, SOST, SOX9, SP7,
SPARC, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCTN3,
TGFB1, THPO, TMEM216, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11,
TP63, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TTC21B, TWIST1, TYROBP, VDR,
WDR19, WDR34, WDR35, WDR60, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A,
XYLT1, ZMPSTE24, ZSWIM6
Genes : CA2, CLCN7, CTSK, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A,
TNFSF11
Genes: ALPL, BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5, LRP5, P3H1,
PLOD2, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1
Genes: HPGD, SLCO2A1
Single Gene