Ciliopathies Ciliopathies Neuromuscular Neuromuscular Disorders Disorders Ciliopathies Ciliopathies About AboutEGL EGLGenetics Genetics EGL EGL Genetics Genetics specializes specializes in in genetic genetic diagnostic diagnostic testing, testing, with with nearly nearly 5050 years years ofof clinical clinical experience experience and and board-certified board-certified laboratory laboratory directors directors and and genetic genetic counselors counselors reporting reporting out out cases. cases. EGL EGL Genetics Genetics offers offers a combined a 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 testing testing forfor allall medically medically relevant relevant genes, genes, forfor domestic domestic and and international international clients. clients. Equally Equally important important toto 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 toto the the scientific scientific and and medical medical communities. communities. EGL EGL Genetics Genetics is is one one ofof only only a few a few clinical clinical diagnostic diagnostic laboratories laboratories toto openly openly share share data data with with the the NCBI NCBI freely freely available available public public database database ClinVar ClinVar (>35,000 (>35,000 variants variants onon >1700 >1700 genes) genes) and and is is also also the the only only laboratory laboratory with with aa free free online online database database (EmVClass), (EmVClass), featuring featuring a variant a variant classification classification search search and and report report request request interface, interface, which which facilitates facilitates rapid rapid interactive interactive curation curation and and reporting reporting ofof variants. variants. Ciliopathies CiliopathiesPanel Panel The The ciliopathies ciliopathies areare a group a group ofof disorders disorders caused caused byby mutation mutation in in genes genes that that encode encode proteins proteins involved involved in in the the formation formation and and function function ofof cilia. 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 areare found found onon almost almost allall cell cell types. types. They They play play a part a part in in multiple 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 areare dependent dependent onon cilia, cilia, defects defects in in cilia cilia may may lead lead toto disorders disorders in in many many different different organ organ systems systems and and processes, processes, including: including: disease disease • cerebral • cerebral anomalies anomalies • congenital • congenital fibrocystic fibrocystic diseases diseases • renal • renal • retinal • retinal degeneration degeneration • skeletal • skeletal dysplasia dysplasia ofof the the pancreas pancreas and and liver liver • diabetes • diabetes • obesity • obesity There There areare 112 112 genes genes onon the the Ciliopathies Ciliopathies Panel Panel (please (please see see reverse reverse side side forfor a list a list ofof genes genes analyzed). analyzed). The The panel panel tests tests forfor genes genes involved involved in in numerous numerous ciliopathy ciliopathy disorders, disorders, including: including: ciliary ciliary dyskinesia dyskinesia • Senior-Loken • Senior-Loken syndrome syndrome • Bardet-Biedl • Bardet-Biedl syndrome syndrome • primary • primary • 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 EGL EGL Genetics Genetics offers offers the the Ciliopathies Ciliopathies Panel Panel toto aidaid in in diagnosis diagnosis when when a ciliopathy a ciliopathy is is suspected. suspected. Ordering Ordering the the Ciliopathies Ciliopathies Panel Panel can can bebe 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 in a patient’s a patient’s disorder disorder is is not not readily readily apparent. apparent. References: References: 1. Ferkol 1. Ferkol andand Leigh, Leigh, (2011), (2011), J Pediatr, J Pediatr, 160:366-371. 160:366-371. 2. Hildebrandt 2. Hildebrandt et al., et al., (2011), (2011), New New Engl Engl J Med, J Med, 364:1533-1543. 364:1533-1543. 3. Ware 3. Ware et al., et al., (2011), (2011), Proc Proc AmAm Thorac Thorac Soc, Soc, 8:444-450. 8:444-450. 4. Waters 4. Waters andand Beales, Beales, (2011), (2011), Pediatr Pediatr Nephrol, Nephrol, 26:1039-1056. 26:1039-1056. For Formore moreinformation informationabout aboutEGL EGLGenetics Geneticsand andthe thenearly nearly1000 1000tests testsweweoffer: offer: CALL CALL 470.378.2200 470.378.2200 WEB WEB eglgenetics.com eglgenetics.com Autism Spectrum Disorders Ciliopathies Disorders Neuromuscular 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 information about EGL Genetics EMAIL CALL and the nearly 1000 WEB tests we offer: 404-778-8499 CALL 470.378.2200 WEB eglgenetics.com
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