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Data Makes a Difference - Genetic Testing Topics [PPMD's 2016 Connect Conference]

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PPMD's Lauren Bogue, MS, CGC presents at PPMD's Annual Connect Conference on June 26, 2016.

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genetic testing duchenne muscular dystrophy duchenne md muscular dystrophy genetic testing carrier testing mutation deletion duplication picture dossier evidence goods notes scoop score details facts dope proof info input results reports figures antecedent assumption authority axiom backbone background backing base bedrock cause center chief ingredient core crux data dictum essence essential explanation footing fundamental hard fact heart infrastructure justification keynote keystone law nexus nucleus postulate premise presumption presupposition principal element principle reason root rudiment sanction security source substratum support theorem theory underpinning warrant binary digit binary unit eight bits unit algorithm bonanza breakthrough conclusion contrivance coup design device find finding formula godsend innovation luck luck out machine method process result secret way affirmation attestation averment cincher clincher clue confirmation corroboration cue declaration demonstration deposition documentation gospel grabber grounds index indication indicia information manifestation mark sign significant smoking gun substantiation symptom testament testimonial testimony token witness basis bit byte discovery compose prepare form produce cause spawn fashion secure frame invent cook shape mold whip parent hatch forge beget effect arrange adjust brew cook up draw on lead to ruin raze deny veto break lose fail kill end crush halt stop start require force drive coerce oblige tamper impress impel press meddle horn in dragoon concuss shotgun ignore demote refuse refute let go tap name elect keep act pass wage fix draft cease idle leave forget equal mix embody divide unmix draw think gauge judge guess receive get pull harvest clear sock obtain rate gain net reap realize hustle take in plant meet head move reach bear attain catch get to stay miss ABCs annal blow by blow bulletin chronicle detail explanation history lowdown make narration narrative play by play recital report run-down score story tab take tale the picture the whole picture version acclimate accommodate accustom alter change come around comply conform familiarize fit get act together get used to grow used to habituate harmonize match modify play the game qualify readjust reconcile remodel revise roll with punches shape up square suit tailor compile connect construct contrive erect fabricate join manufacture model piece together set up unite weld be delivered of breed bring forth create develop engender fructify generate parturitate propagate provide reproduce yield activate actualize break ground break the ice bring about bring to pass commence embark on enter on enter upon establish eventuate found get going give birth to give impulse go ahead go into inaugurate induce initiate instigate institute introduce launch lay foundation for lead make active motivate mount occasion open originate plunge into set about set in motion trigger undertake cast character class description grade quality sort species variety account adapt assemble begin brand ma'ke contrast change variety anomaly variance accord assent consent harmony clash debate tiff hassle brush row beef scrap spat brawl words run-in strife blowup set-to dustup peace departure deviation difference distortion divergence diversion irregularity lapse straying wandering about-face accommodation adaptation adjustment amendment conversion correction diversification exchange fixing flip-flop metamorphosis mid-course correction modification mutation reformation remodeling reshaping revision shift switch switch-over transformation transmutation turn variation animosity animus antipathy antithesis clashing competition conflict contention contradistinction contrariety disagreement discord dissension enmity friction hatred hostility incongruity oppugnancy rancor resistance rivalry dividend excess profit remainder residue rest surplus alienation break disaffection disharmony disunity division estrangement falling-out fissure fracture parting of the ways quarrel rent rift rupture schism secession separation severance split withdrawal addition advance compression contraction development diversity innovation modulation novelty permutation reconstruction refinement reversal revolution surrogate tempering transition turnover vicissitude aberration alteration antagonism balance breach Difference ancestral digenetic eugenic genital acquired bequeathed family genealogical genetic handed down heritable inborn inbred inheritable inherited lineal maternal paternal patrimonial traditional transmissible transmitted willed built-in characteristic congenital connate constitutional deep-rooted deep-seated distinctive elementary essential fixed fundamental immanent implicit in the grain inbuilt indigenous indispensable individual indwelling ingrained innate inner instinctive integral integrated internal intimate intrinsic inward latent native natural original part and parcel resident running in the family subjective unalienable in the blood in the genes passed down rooted ethnological folk hereditary national phyletic phylogenetic tribal domestic inherent racial familial Genetics genetics science fraud pseudoscience dna chemical imbalance test trial proving proof cogent conclusive detailed diagnostic discrete dissecting explanatory expository inquiring inquisitive interpretive investigative judicious logical organized penetrating perceptive perspicuous precise problem-solving questioning ratiocinative rational reasonable scientific searching solid sound studious subtle systematic testing thorough valid well-grounded dubious experimental flaky mostly working new pre-release suspect unready allegory analogizing analogy analyzing association balancing bringing together collating collation comparability connection contrast correlation discrimination distinguishing dividing estimation example exemplification identification illustration juxtaposition likeness likening measuring metaphor observation opposition paralleling ratio relating relation resemblance segregation separation similarity weighing challenge concours discussion game match meet meeting rencounter sport tournament trying balloon exploratory pilot preliminary probationary provisional tentative R and D analysis assay attempt audition check crack dry run effort endeavor essay examination experience experiment experimentation fling hassle investigation lick probation research and development shakedown shot showcase stab striving struggle test run trial and error trial run try try on tryout undertaking venture whack workout analytic beta comparison contest Testing case affair business point material question argument matter theme field problem issue subject division head motif text motion thesis theorem motive fact capacity cargo chapters connotation constituents details divisions essence filling freight furnishing gist guts implication ingredients innards inside lading load meaning nub packing shipment significance size space stuffing subject matter subjects substance sum themes topics volume assignment avocation calling circumstance concern duty employment episode event hap happening incident interest job mission obligation occupation occurrence office function proceeding profession project province pursuit realm responsibility task thing topic transaction undertaking beeswax carrying on function goings-on hanky-panky lookout palaver affiliate branch clause member offshoot part period phase stage unit wing basis bearing bottom line burden core drift force heart idea import kernel keynote marrow meat name of the game nature of the beast nitty gritty nuts and bolts pith punch line quintessence score sense short soul spirit stuff summary tenor thrust upshot contention controversy matter of contention point of departure puzzle contents chapter ppmd 2016 attach relate join bridge affix span wed couple unite tag yoke equate fasten cohere marry ally tag on tie in detach loosen sever divide unlink abut approximate be adjacent to border butt communicate connect lie lie beside link neighbor touch verge add annex append combine interconnect align balance bring into line calibrate correct fine-tune fit fix focus grind improve improve accommodate mend overhaul polish put in working order readjust rectify regulate renovate repair service set sharpen square tighten troubleshoot tune up amalgamate associate band together come aboard confederate form connection go partners hook up incorporate line up plug into team up throw in with tie up adjoin appropriate hitch on hitch up hook on slap on subjoin tack on take on take over affect allude appertain be applicable be pertinent bear upon concern involve pertain refer regard suit adjust affiliate apply connects CONNECT Connects conference Conference ancestral digenetic eugenic genital acquired bequeathed family genealogical genetic handed down heritable inborn inbred inheritable inherited lineal maternal paternal patrimonial traditional transmissible transmitted willed built-in characteristic congenital connate constitutional deep-rooted deep-seated distinctive elementary essential fixed fundamental immanent implicit in the grain inbuilt indigenous indispensable individual indwelling ingrained innate inner instinctive integral integrated internal intimate intrinsic inward latent native natural original part and parcel resident running in the family subjective unalienable in the blood in the genes passed down rooted ethnological folk hereditary national phyletic phylogenetic tribal domestic inherent racial familial Genetics genetics test trial proving proof cogent conclusive detailed diagnostic discrete dissecting explanatory expository inquiring inquisitive interpretive investigative judicious logical organized penetrating perceptive perspicuous precise problem-solving questioning ratiocinative rational reasonable scientific searching solid sound studious subtle systematic testing thorough valid well-grounded dubious experimental flaky mostly working new pre-release suspect unready allegory analogizing analogy analyzing association balancing bringing together collating collation comparability connection contrast correlation discrimination distinguishing dividing estimation example exemplification identification illustration juxtaposition likeness likening measuring metaphor observation opposition paralleling ratio relating relation resemblance segregation separation similarity weighing challenge concours discussion game match meet meeting rencounter sport tournament trying balloon exploratory pilot preliminary probationary provisional tentative R and D analysis assay attempt audition check crack dry run effort endeavor essay examination experience experiment experimentation fling hassle investigation lick probation research and development shakedown shot showcase stab striving struggle test run trial and error trial run try try on tryout undertaking venture whack workout analytic beta comparison contest Duchenne sinewy burly sturdy brawny stout robust wiry hefty husky lusty mighty strong tiger tough hulky ripped ropy small thin weak beastly bestial bodily brute brutish corporeal earthly earthy feral fleshy mammalian muscular natural physical sensual untamed wild zoological able-bodied active energetic fit powerful strapping vigorous athletic beefcake beefy big bruising bulky gorillalike hulking hunk portly stocky thickset well-built coarse fibroid hairy pulpy stalky threadlike tissued veined woody able acclimatized capable enduring firm fresh hale hardened healthy hearty in fine fettle in good condition in good shape indefatigable inured physically fit resistant rugged seasoned solid sound stalwart staunch substantial tenacious unflagging well all right blooming bright-eyed bushy-tailed chipper flourishing full of life hardy healthful in fine feather in the pink lively normal potent restored rosy-cheeked safe and sound trim unimpaired virile whole animal fibrous shipper messenger bearer courier receiver warship flattop agent beast of burden carrier conveyor drogher emissary envoy internuncio porter runner servant transporter approach aqueduct arroyo artery avenue canal canyon chamber chase conduit course dig ditch duct fluting furrow gouge groove gully gutter main means medium pass passage pipe raceway route runway sewer slit sound strait tideway trough tube tunnel vein watercourse way dispatcher express go-between gofer gopher herald intelligencer cart pushcart ambassador consul delegate front hired gun intermediary legate rep representative scout spy attaché chargé d'affaires diplomat minister nuncio plenipotentiary vicar channel dolly anomaly variation deviation evolution mutant novelty deviant change sameness inaction about-face accommodation adaptation adjustment amendment conversion correction difference diversification exchange fixing flip-flop metamorphosis mid-course correction modification mutation reformation remodeling reshaping revision shift switch switch-over transformation transmutation turn variance abnormality congenital anomaly congenital defect congenital malformation deformity disability addition advance break compression contraction development distortion diversity innovation modulation permutation reconstruction refinement reversal revolution surrogate tempering transition turnover variety vicissitude aberration alteration alterity crotch deflection departure detour digression disagreeing discrepancy disparity dissemblance dissimilarity dissimilitude distinction divagation divergency division fork otherness parting radiation ramification separation turning unlikeness varying flow fluctuation fluidity instability motion mutability unrest abortion chimera curiosity geek grotesque malformation miscreation misshape monster monstrosity oddity queer rarity sport weirdo birth defect divergence flux freak Mutation cut abatement abolition abrogation annihilation breakup cancellation countermanding dedomiciling deletion discharge dissolution erasing going phfft invalidation negation neutralization nullification obliteration recall repeal rescinding rescindment rescission retraction reversal revocation split split up undoing vitiation voiding abandoning abandonment abolishing annulment canceling dissolving elimination invalidating overruling quashing recalling repudiation retirement retracting reversing revoking withdrawing blotting out crossing out deleting effacing eradication expunction expunging rubbing out scratching out wiping out erasure
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