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Ciliopathiesneuromuscularciliopathies Disorders Disorders Ciliopathiesciliopathies NeuromuscularCiliopathiesNeuromuscularCiliopathies Disorders Disorders CiliopathiesCiliopathies AboutAbout EGL EGL Genet Geneticsics EGLEGL Genetics Genetics specializes specializes in ingenetic genetic diagnostic diagnostic testing, testing, with with ne nearlyarly 50 50 years years of of clinical clinical experience experience and and board-certified board-certified labor laboratoryatory directorsdirectors and and genetic genetic counselors counselors reporting reporting out out cases. cases. EGL EGL Genet Geneticsics offers offers a combineda combined 1000 1000 molecular molecular genetics, genetics, biochemical biochemical genetics,genetics, and and cytogenetics cytogenetics tests tests under under one one roof roof and and custom custom test testinging for for all all medically medically relevant relevant genes, genes, for for domestic domestic andand international international clients. clients. EquallyEqually important important to to improving improving patient patient care care through through quality quality genetic genetic testing testing is is the the contribution contribution EGL EGL Genetics Genetics makes makes back back to to thethe scientific scientific and and medical medical communities. communities. EGL EGL Genetics Genetics is is one one of of only only a afew few clinical clinical diagnostic diagnostic laboratories laboratories to to openly openly share share data data withwith the the NCBI NCBI freely freely available available public public database database ClinVar ClinVar (>35,000 (>35,000 variants variants on on >1700 >1700 genes) genes) and and is isalso also the the only only laboratory laboratory with with a a frefree oen olinnlein dea dtabtaabsaes (eE m(EVmCVlaCslas)s,s f)e, afetuatruinrgin ag vaa vraiarniatn ctl acslasisfiscifiactiaotino sne saercahrc ahn adn rde rpeoprot rrte rqeuqeuset sint tinetrefarcfaec, ew, hwichhic fha cfailcitialiteatse rsa praidp id interactiveinteractive curation curation and and reporting reporting of of variants. variants. CiliopathiesCiliopathies Panel Panel TheThe ciliopathies ciliopathies are are a groupa group of of disorders disorders caused caused by by mutation mutation in ingenes genes that that encode encode proteins proteins involved involved in inthe the formation formation andand function function of ofcilia. cilia. Cilia Cilia are are microtubule-based, microtubule-based, hair-like hair-like cytoplasmic cytoplasmic extensions extensions from from the the cell cell surface surface and and are are found found on on almostalmost all all cell cell types. types. They They play play a parta part in inmultiple multiple biological biological processes, processes, including including cellular cellular motility, motility, extracellular extracellular fluid fluid movement,movement, and and sensory sensory and and signal signal transduction transduction pathways. pathways. AsAs many many developmental developmental and and physiological physiological functions functions are are dependent dependent on oncilia, cilia, defects defects in incilia cilia may may lead lead to todisorders disorders in inmany many differentdifferent organ organ systems systems and and processes, processes, including: including: • renal• renal disease disease • cerebral• cerebral anomalies anomalies • congenital• congenital fibrocystic fibrocystic diseases diseases • retinal• retinal degeneration degeneration • skeletal• skeletal dysplasia dysplasia ofof the the pancreas pancreas and and liver liver • diabetes• diabetes • obesity• obesity ThereThere are are 112 112 genes genes on on the the Ciliopathies Ciliopathies Panel Panel (please (please see see reverse reverse side side for for a lista list of of genes genes analyzed). analyzed). The The panel panel tests tests for for genesgenes involved involved in innumerous numerous ciliopathy ciliopathy disorders, disorders, including: including: • primary• primary ciliary ciliary dyskinesia dyskinesia • Senior-Loken • Senior-Loken syndrome syndrome • Bardet-Biedl • Bardet-Biedl syndrome syndrome • heterotaxy• heterotaxy • Leber• Leber congenital congenital amaurosis amaurosis • Meckel-Gruber • Meckel-Gruber syndrome syndrome • Joubert• Joubert and and related related syndromes syndromes • Usher • Usher syndrome syndrome • nephronophthisis• nephronophthisis EGLEGL Genetics Genetics offers offers the the Ciliopathies Ciliopathies Panel Panel to toaid aid in indiagnosis diagnosis when when a ciliopathya ciliopathy is issuspected. suspected. Ordering Ordering the the Ciliopathies Ciliopathies Panel Panel cancan be be more more cost-effective cost-effective than than single-gene single-gene analysis analysis when when the the specific specific gene gene involved involved in ina apatient’s patient’s disorder disorder is is not not readily readily apparent.apparent. References:References: 1. Ferkol1. Ferkol and and Leigh, Leigh, (2011), (2011), J Pediatr J Pediatr, 160:366-371., 160:366-371. 2. Hildebrandt2. Hildebrandt et al.et ,al. (2011),, (2011), New New Engl Engl J Med J Med, 364:1533-1543., 364:1533-1543. 3. Ware3. Ware et al.et ,al. (2011),, (2011), Proc Proc Am Am Thorac Thorac Soc Soc, 8:444-450., 8:444-450. 4. Waters4. Waters and and Beales, Beales, (2011), (2011), Pediatr Pediatr Nephrol Nephrol, 26:1039-1056., 26:1039-1056. ForFor more more information information about about EGL EGL Genetics Genetics and and the the nearly nearly 1000 1000 tests tests we we offer: offer: CALLCALL WEB WEB 470.378.2200 470.378.2200 eglgenetics.com eglgenetics.com NeuromuscularAutismCiliopathies Spectrum DisordersDisorders Ciliopathies Genes Included on the Ciliopathies Panel* ACVR2B BBS12 CRX GLIS2 MKS1 RDH12 TMEM138 VHL AHI1 C2orf71 DFNB31 GPR98 MYO7A RPE65 TMEM216 WDPCP AIPL1 C5orf42 DNAAF1 GUCY2D NEK1 RPGR TMEM231 WDR19 ARL13B CC2D2A DNAAF2 HYLS1 NEK8 RPGRIP1 TMEM237 WDR35 ARL6 CCDC28B DNAAF3 IFT43 NKX2-5 RPGRIP1L TOPORS XPNPEP3 ATXN10 CCDC39 DNAH5 IFT80 NME8 RSPH4A TRIM32 ZIC3 B9D1 CCDC40 DNAH11 IMPDH1 NODAL RSPH9 TSC1 ZNF423 B9D2 CDH23 DNAI1 INVS NPHP1 SCNN1A TSC2 BBS1 CEP164 DNAI2 IQCB1 NPHP3 SCNN1B TTC21B BBS2 CEP290 DNAL1 KCNJ13 NPHP4 SCNN1G TTC8 BBS4 CEP41 DYNC2H1 KIF7 OFD1 SDCCAG8 TULP1 BBS5 CFTR EVC LCA5 PCDH15 SPATA7 UMOD BBS7 CLRN1 EVC2 LEFTY2 PKD2 TCTN1 USH1C BBS9 CRB1 FOXH1 LRAT PKHD1 TCTN2 USH1G BBS10 CRELD1 GDF1 MKKS RD3 TMEM67 USH2A Test Code Test Name CPT®** Codes 81404 (x1), 81405 (x1), 81406 (x1) 81403 (x1), 81405 (x1), 81406 (x1) For more informationEMAIL about EGL GeneticsCALL and the nearly 1000WEB tests we offer: 404-778-8499 CALL WEB 470.378.2200 eglgenetics.com.
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