Fa t Sheet 15 | GENETIC AND GENOMIC TESTING

This fa t sheet is a out ge ei tesi g. It des ri es a u er of a s that a perso s ge ei ake-up a

e looked at to deter i e hether the ha e a ariaio hi h a ea the or so eo e else i their
fa il is at risk of ha i g a ge ei o diio

I su ary
Ge ei tesi g i ol es a alysis of a perso s DNA or the essage that the
DNA ode is se di g to the ells of the ody
Ge ei tesi g a e arried out o a de elopi g a y pre atal , duri g hildhood
or later i life
Depe di g o the type of ge ei o diio ei g tested for or the type of ariaio ,
difere t ways of a alysi g the DNA will e uilised.

DNA AND GENES So e ge e ariaio s do ake the ge e fault so

Our DNA is ade up of se io s that ode for
protei s, our ge es, a d se io s that do ot ode
for protei s. Protei s do the ork i our ells a d
these are er i porta t for or al ell fu io
a d our health. Our protei odi g DNA, our
ge es, do ot o tai u h ariaio . Se io s of
our DNA that do ot ode for protei o tai
u h ore ariaio . We do ot u dersta d all
the fu io s of these o -protei odi g se io s
of DNA, ut e k o se io s a e i porta t
for o trolli g our ge es.
People ge erall ha e the sa e u er a d
se ue e of ge es so that the sa e essages are
se t to the od . Ho e er, there a e s all
ariaio s et ee i di iduals i the i for aio
o tai ed i spe ii DNA odes. Me ers of the
sa e fa il te d to e ore si ilar i their ge es
tha u related i di iduals.
A exa ple of this is e e olour. E er o e has t o
ge es that deter i e e e olour, ut ha ges i
these ge es a ake e e olour ar , this is h
so e people ha e lue e es, so e ro , so e
hazel. The sa e ge e a se d difere t
essages e ause of ariaio s i the essages.
Si ilarl , there a e s all ariaio s i our DNA
that a afe t ho our odies gro a d de elop.
Ge erall these aria ts do ot ha e a i pa t
o our health a d are alled eutral aria ts or
poly orphis s poly ea s a ; orphis s
ea s for s . Pol orphis s are uite o o
i the DNA ode.
that the essage is ot read orre tl or is ot
read at all the ell. A ariaio i a ge e that
akes it fault is alled a utaio or pathoge i
aria t.
WHAT IS GENETIC TESTING?
Ge ei tesi g is the a al sis of i for aio i the
DNA of a i di idual. There are a u er of
difere t t pes of ge ei tests a d the t pe of
ge ei test arried out ill depe d o the t pe of
DNA ha ge ei g tested for a d also the t pe of
ge ei o diio i uesio .
HOW IS THE TESTING DONE?
Ge ei tesi g usuall i ol es taki g a sa ple of
od issue. The t pe depe ds o the pari ular
test a d a i lude lood, ells o tai ed fro
the li i g of the heek or the ells i the roots of
a i di iduals hair, a ioi luid or ells fro
horio i illi sa pli g i preg a as ell as a
ariet of od luids a d issues.
Looki g for utaio s i the ge ei ode dire t
ge e tesi g)
If the se ue e of DNA leters i a ge e is ot a le
to e read i the orre t a , the protei a ot
e produ ed i the right a ou t, or produ ed i a
for that ill ot fu io or is ot produ ed at
all. This a lead to health pro le s a d a e
re og ised as a ge ei o diio .

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 Fa t Sheet 15 | GENETIC AND GENOMIC TESTING
The irst step i deter i i g the ause of a
ge ei o diio is to lo ate the ge e i ol ed.
The lo aio of a of the ge es i hu a s is
o k o .
The ext step is to stud the se ue e of leters i
the ge e or surrou di g the ge e i a perso s
ells. It is i porta t to deter i e if the se ue e
of leters i the ge e is orre t therefore
produ i g the right protei i the appropriate
a ou t or i orre t a d therefore has a
utaio alteri g the t pe or a ou t of protei
produ ed .
Ge ei tesi g ai s to deter i e hether a
perso has or does ot ha e a utaio i a
pari ular ge e. This a e i porta t i for aio
for oth that perso a d their fa il for a u er
of reaso s.
Ge ei tesi g a lead to the diag osis of a
ge ei o diio i that i di idual or other
e ers of their fa il
For so e o o o diio s, the results of a
ge ei test a sho that a perso is at
i reased risk of de elopi g a pari ular
o diio . This is k o as predi i e tesi g
for o diio s su h as fa ilial reast a er
More rarel , a ge ei test a deter i e
hether a perso ill de elop a o diio
later i life, ased o the prese e of a
utaio . This a e ide iied lo g efore
a s pto s are prese t a d is alled pre-
sy pto ai ge ei tesi g. A exa ple of
a o diio here this is possi le is alled
Hu i gto disease.
Ge o i tesi g also k ow as whole ge o e
se ue i g, ge o e wide se ue i g, assi e
parallel se ue i g or e t ge eraio
se ue i g .
Ge o i tesi g refers to ge ei tesi g that
looks for ariaio s i the hole ge o e all
ge es a d the regio s i et ee at o e i e
rather tha looki g at just o e or a fe ge es.
For edi al purposes, ge o i tesi g is urre tl
ei g used i the resear h sei g as there is sill a
eed for further u dersta di g of ho to a al se
the e or ous a ou t of data ge erated a d ho
to a age the results.
.ge ei s.edu.au
Tesi g the hole ge o e at o e ea s that
a aria ts a e ide iied here their
i pa t o a perso s health a e:
U k o
Not alidated i resear h
U expe ted a d i ide tal.
At prese t, a health professio als a d
la oratories are usi g targeted tesi g see elo
u il further pro esses are i pla e to a al se a d
est a age the o plex results of full ge o e
tesi g.
Targeted ge ei tesi g
Targeted ge ei tesi g refers to ge ei tesi g
hi h fo uses o a group of ge es a d i ludes
the follo i g te h i ues:
Pa el tesi g:
Where a pa el of related ge es are tested,
i.e. a pa el of ge es related to heart
disease.
E o e se ue ci g:
The exo e is the odi g se io of DNA
a d akes up a out % of a i di iduals
e ire ge o e. Exo e se ue i g uses a
te h i ue that allo s uliple stra ds of
DNA to e se ue ed si ulta eousl . The
exo e is thought to o tai the ajorit
of disease- ausi g utaio s. A al si g
o l % of the ge o e greatl redu es the
a ou t of i for aio to e iltered a d
the ost of the pro ess.
Microarray tesi g:
So ei es alled o parai e ge o i
h ridisaio CGH , hro oso al i roarra
CMA tesi g is a detailed ge ei test that
a dete t extra or issi g seg e ts of
ge ei aterial or DNA. A CMA test exa i es
the a ou t of DNA prese t a d looks for a
ariaio i the u er of opies of the
seg e ts. These are k o as op
u er aria ts. If the test i ds a op
u er aria t, the la orator ill he k
hi h ge es it o tai s a d if the relate
to the suspe ted o diio . CMA tesi g
a e suggested if a perso has a pater
of de elop e t or health o er s that
are suspe ted to e aused extra or
issi g se io s of DNA.
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 Fa t Sheet 15 | GENETIC AND GENOMIC TESTING
I targeted ge ei tesi g, there is also the
pote ial for results that are u expe ted or of
u ertai or u k o sig ii a e ut ot to the
sa e degree as i ge o e ide se ue i g.
Ho e er expert a al sis is sill e essar to full
u dersta d the i pli aio s of these results.
Ge ei s ree i g
Ge ei s ree i g i ol es the sa e pro esses
i ol ed i ge ei tesi g ut is u dertake for a
pari ular o diio i i di iduals, groups or
populaio s here there is ot a fa il histor of
the o diio . The difere e et ee ge ei
tesi g a d ge ei s ree i g is the target group
for the tesi g.
WHY CONSIDER A GENETIC TEST?
a) Diagnosis
Ge ei tesi g a e used to diag ose
o diio s at all stages of life, fro o epio to
the er e d of life.
) Genei arrier tesing
People a also e ge ei arriers of ariaio s i
ge es ithout sho i g a sig s or s pto s of
a ge ei o diio . Ho e er if oth pare ts are
ge ei arriers of the sa e utaio , there is a
ha e that their hildre a e afe ted
ge ei o diio .
) Genei arrier s reening
Ge ei arrier s ree i g is a dire t ge e test
applied to a hole populaio or to a dei ed
group. For exa ple, ge ei arrier s ree i g a
e a aila le for people i the populaio ho
ha e o perso al or fa il histor of a o diio
ut ho ha e a greater tha a erage ha e of
arr i g a pari ular ariaio due to their
a estr .
d) Ne orn s reening
Ge ei s ree i g is do e o all e or a ies
i Australia a d Ne )eala d a si ple lood
test to dete t a fe rare ge ei o diio s. The
lood sa ple is take a heel-pri k efore the
a lea es hospital, or for ho e irths, o a out
da , a d is se t to a spe ial la orator .
.ge ei s.edu.au
e) Pre-sy pto ai genei tesing
Dire t ge ei tesi g is o ei g used to
deter i e if a perso ill de elop ertai
i herited o diio s later i life. This t pe of
ge ei tesi g is referred to as pre-s pto ai
tesi g here the dete io of a utaio i a
perso ith a fa il histor of a pari ular
o diio , ut ho urre tl has o s pto s of
that o diio , ea s that that perso ill
ertai l de elop the o diio i later life.
Pre-s pto ai tesi g is a aila le for a u er
of eurodege erai e diseases su h as
Hu i gto disease a d so e for s of o el
a er.
f) Predi i e Genei Tesing
So ei es the dete io of a spe ii utaio
i plies a perso has a i reased risk esi ate or
ha e, rather tha ertai t , that the ill
de elop a pari ular o diio later i life. This
t pe of dire t ge e tesi g is alled predi i e
tesi g.
Predi i e tesi g for so e fa ilies is a aila le for
i herited o diio s su h as a i herited
predisposiio to reast a er.
a LIMITATIONS OF GENETIC TESTING
Fi di g that a perso has a ariaio i a ge e
i ol ed i a pari ular o diio does ot al a s
relate to ho a perso is, or ill e, afe ted
that o diio . There a e odif i g fa tors
other ge es, e iro e tal fa tors that a
afe t the expressio of the essage fro the
ge e. This a explai the aria ilit of
s pto s et ee afe ted e ers of the o e
fa il
Despite the re e t ad a es i DNA a al sis,
ide if i g a d u dersta di g the ea i g of
ariaio s i the DNA se ue es i ge es is ot
al a s eas .
Ma of the ge es i hi h ariaio s lead to
a o diio ode for er large essages.
Cha ges a o ur a here alo g the le gth
of the DNA seg e t aki g up the ge e a d
it a take a lo g i e to sear h the hole
ge e for a ausai e ha ge.
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 Fa t Sheet 15 | GENETIC AND GENOMIC TESTING

A si gle ge e a ha e a possi le ETHICAL ISSUES

ariaio s so e ake the ge e fault There are ad a tages a d disad a tages to
utaio s ; others ha e o efe t o ho ge ei tesi g. Ge ei tesi g should o l e
the ge e orks a d others are of u k o used ater all the e eits, osts a d i pli aio s
sig ii a e. For exa ple, there are o er ha e ee o sidered.
, utaio s that ha e ee dete ted to Ge ei tesi g ill usuall e dis ussed ith a
date at difere t pla es alo g the le gth of spe ialist ge ei tea ho a pro ide the ost
the ge e i ol ed i si i rosis CF . It is up to date i for aio i order to e sure the
also likel that there are other utaio s ge ei test is ei g ofered a d u dertake ith
that ha e ot et ee ide iied
full o se t i the ost i for ed a d o sidered
La oratories ote test for o l so e of the a for the i di idual a d their fa il .
ore o o l k o utaio s i a ge e
a d ot for the prese e of those that o ur
u h ore rarel
For so e o plex o diio s that de elop as
a result of the i tera io et ee the
perso s ge ei ake-up a d other
e iro e tal or other ge ei fa tors, for
exa ple i a er, the tesi g a ha e to
e do e o a fa il e er ith the
o diio to ide if the fa il -spe ii
utaio i the ge e utaio sear hi g
efore other health fa il e ers a e
ofered predi i e tesi g.

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 Fa t Sheet 16 | CHROMOSOME MICROARRAY CMA TESTING IN
CHILDREN & ADULTS

This fa t sheet des ri es a lood test hi h he ks for extra or issi g pie es of ge ei aterial DNA i
the ells of the od

I su ary
Chro oso e i roarray CMA tesi g is a detailed ge ei test that a dete t e tra or
issi g seg e ts of ge ei aterial or DNA
The test a e do e o a lood sa ple i adults a d hildre .

OUR DNA WHAT INFORMATION WILL THE CMA TEST

I all the ells of our od our ge ei aterial, or PROVIDE?
DNA, is pa kaged o stri g like stru tures alled There is a CMA Tesi g Guide for do tors a d
hro oso es. Our DNA o tai s oded paie ts a aila le at .ge ei s.edu.au
i for aio our ge es that is used the ells to As part of a i esigaio i to a de elop e tal or
ake our odies gro a d fu io properl . It is health o er a out our hild or ourself, our
i porta t that there is the orre t a ou t of DNA do tor or ge ei s spe ialist a suggest a
i for aio i ea h ell of our od , as ha i g hro oso e i roarra CMA test that looks for
ore or less DNA tha usual, a ause health or extra or issi g DNA seg e ts. The i for aio
de elop e tal o er s. elo ill help ou u dersta d ho this test
There are usuall hro oso es i ea h of our orks a d hat i for aio ou a re ei e fro
ells, arra ged i pairs. it.
WHAT IS CMA TESTING? . No opy nu er ariant is found
Chro oso e i roarra CMA tesi g is a The ause of the health or de elop e tal
detailed ge ei test that a dete t extra or o er re ai s u explai ed.
issi g seg e ts of ge ei aterial or DNA. As This is the ost o o result.
there are usuall t o opies of ea h hro oso e,
. A opy nu er ariant is found hi h does
there should e t o opies of ea h seg e t of
not usually ause any health or
DNA. de elop ental on ern
Usi g a s all sa ple of lood, a CMA test ill These are so ei es alled e ig opy
exa i e the a ou t of DNA prese t a d look for u er aria ts.
a ariaio i the u er of opies of the The ause of the health or de elop e tal
seg e ts. This is k o as a opy u er o er re ai s u explai ed.
aria t.
. A opy nu er ariant is found that e plains
If the test i ds a op u er aria t, the the health or de elop ental on ern
la orator ill he k hi h ge es it o tai s. So ei es addiio al tesi g ill e suggested
U dersta di g the ge es that are prese t i extra to o ir the result a other ethod or
opies, or are issi g, a pro ide i for aio tesi g of the pare ts to see if the aria t is
a out hat the result ea s for that i di idual o l prese t i the hild or as i herited fro
su h as: a pare t.
The ause of the de elop e tal or health
o er
Ho s pto s ight de elop o er i e
The possi ilit of the o diio afe i g
future hildre .

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 Fa t Sheet 16 | CHROMOSOME MICROARRAY CMA TESTING IN
CHILDREN & ADULTS
. A opy nu er ariant is found ut its
i pa t on health or de elop ent is un lear
This t pe of result is alled a aria t of
u k ow sig ii a e. There are a u er of
steps eeded to further i esigate this
result. Addiio al tesi g ill e e essar to
o ir the result a other ethod. Also,
tesi g of pare ts ill usuall e re uested to
see if the aria t is o l prese t i the hild
or as i herited fro a pare t.
The results of this addiio al tesi g ill e:
O e of the pare ts also has the copy u er
varia t
If the pare t has the sa e o diio as
the hild, the aria t is likel to e the
ause of the health or de elop e tal
o er
If the pare t does ot ha e the sa e
o diio as the hild, the aria t is less
likel to e the ause of the health or
de elop e tal o er . Ho e er,
further tesi g of other fa il e ers
ight e eeded to o ir this
i terpretaio of the i di g
Neither of the pare ts has the copy u er
varia t
.ge ei s.edu.au
This ea s the aria t ust ha e o urred
duri g or soo ater the hilds o epio a
de o o aria t . T o i terpretaio s are
possi le:
The aria t is o sidered to e the ause of
the de elop e tal or health o er s ei g
tested for
O
We do ot u dersta d ho the aria t ight
relate to the de elop e tal or health
o er s ei g tested for. Therefore the
result re ai s of u ertai sig ii a e.
. A opy nu er ariant is found that
ontains a gene or genes unrelated to the
de elop ental or health on erns, ut
hi h ould potenially ause other health
pro le s in the future.
This ill e a rare result. The ge es lo ated
i the extra or issi g DNA seg e t are
k o to e asso iated ith other health or
de elop e tal o er s. This i for aio
ould e sig ii a t for our hilds, or our,
future health.
It is i porta t to dis uss hat t pe of
i for aio ou ill re ei e fro this test
ith our do tor or ge ei s li i .
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 Fa t Sheet 17 | FORENSIC, PATERNITY AND ANCESTRY DNA TESTING

This fa t sheet des ri es the DNA tesi g ge ei tesi g pro ess for o - edi al purposes of fore si ,
pater it a d a estr a al sis.

I su ary
DNA tesi g for fore si , pater it a d a estr looks for s all difere es a d
si ilariies et ee i di iduals i their DNA
DNA i gerpri i g DNA pater a e used to esi ate the ha e that t o sa ples
are fro the sa e perso
I for ed o se t fro oth pare ts, ualit o trol of the test a d a aila ilit of
ou selli g are i porta t for pater it tesi g
A estr tesi g looks for lues a out here a estors ight o e fro a d relaio ships
i fa ilies.

DNA TESTING Like ge es, o - odi g DNA o tai s large

DNA tesi g is the a al sis of i for aio i our
hro oso es a d ge es that pro ide the
i stru io s the ode for aki g protei s. DNA
tesi g for fore si , pater it a d a estr looks
for s all difere es a d si ilariies et ee
people i their DNA. This t pe of tesi g usuall
i ol es a al sis of regio s et ee ge es o -
odi g DNA a d o pares the i di gs to
data ases to look for si ilariies. DNA tesi g that
looks for spe ii ariaio s a ross the hole
ge o e is o also ei g used.
ABOUT DNA
DNA o tai s the i stru io s for gro th
de elop e t i hu a s a d all li i g thi gs.
DNA Deox ri oNu lei A id is pa kaged
hro oso es that o tai all our ge es
pro ide a ode for aki g protei s.
The DNA ode is ade up of er lo g hai s of
four asi uildi g lo ks ucleoide ases alled
Ade i e A , Gua i e G , Th i e T a d
C tosi e C a d difere t o i aio s of these
he i al leters akes the ode. There are a out
illio ases a d o er , ge es fou d i the
DNA of ea h perso a d ea h ge e has its o
spe ii lo aio o a hro oso e or o the
ito ho drial DNA. Ge es plus the regio
et ee ea h ge e o - odi g DNA ake up a
perso s ge o e. Mito ho dria, s all u its i the
ells i ol ed i e erg produ io , ha e their
o separate DNA.
u ers of repeated he i al leters A,G,T,C
alo g its le gth. The u er of i es that a
se ue e is repeated ithi a le gth of o -
odi g DNA a ra ge fro just a fe to
hu dreds.
As e ha e e ol ed, ha ges ha e uilt up i our
o - odi g DNA as ell as our ge es. We all ha e
s all ariaio s i our ge ei ode. That is h
e are u i ue.
DNA DIFFERENCES AND SIMILARITIES IN
HUMANS
Despite these ariaio s i our o - odi g DNA:
a d Most hu a s are o er hel i gl alike i
Our their se ue e of leters i their DNA although
i to ea h perso s se ue e is u i ue ex ept for
that ide i al t i s
DNA sa ples fro t o people difer o
a erage at o l o e leter or ase per
thousa d. Therefore, per , of illio
ases ea s there are a out illio
difere es i the total DNA of t o u related
people
These ariaio s are e ough to produ e all the
ge ei difere es et ee these t o people
The loser t o people are related to ea h
other, the greater the ha e their DNA
se ue e ill e si ilar
The s all difere es a d si ilariies i the
DNA se ue e et ee people are used i
DNA tesi g to deter i e the ide ii aio of
i di iduals.

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 Fa t Sheet 17 | FORENSIC, PATERNITY AND ANCESTRY DNA TESTING
TESTING NON-CODING DNA FOR NON- MEDICAL
PURPOSES
U like tests o DNA for edi al purposes, o -
odi g DNA tesi g looks at spe ii areas alled
lo i si gular locus i the o - odi g DNA that
are ge erall ot related to our health.
These lo i are fou d at a u er of sites o ea h
hro oso e. The lo i used for DNA tesi g are
those that ha e difere t u ers of the
repeated se ue es i difere t people i the
populaio .
All our hro oso es o e i pairs, hi h ea s
that ea h perso has t o part eri g lo i for e er
paired hro oso e. The ill ha e a spe ii
u er of repeats at ea h of these lo i o oth
their hro oso es, a d this u er of repeats
a e the sa e or difere t et ee the
part eri g lo i.
I for aio fro spe ii lo i is used to reate a
DNA pater or DNA i gerpri t for ea h perso .
CREATING A DNA FINGERPRINT OR PATTERN
FOR A PERSON
The asi pri iples u derl i g ho DNA tesi g is
do e i ludes Figure 7. :
Step :
I the la orator , usi g e z es that a t as
he i al s issors, the DNA is ut i to
hu dreds of s all pie es here there are
spe ii se ue es of the DNA leters
Step :
The ut DNA is pla ed i to a sla of jell a gel
atrix a d a ele tri al urre t is applied so
that the jell e o es ele tri all harged
a d has a posii e + e d at the top a d a
egai e - e d at the oto , just like the
posii e a d egai e e ds of a ater
As the DNA is a he i al hi h has a egai e
harge, the DNA is pulled to ards the posii e
e d of the gel or fro the top to the oto
The pie es of DNA separate alo g the gel
a ordi g to size: the iggest pie es o e the
slo est a d so ill re ai ear to the top of
the gel
.ge ei s.edu.au
The gel o o tai s all of the perso s DNA
spread fro the top to the oto of the gel.
Step :
To sele t out the pie es of DNA that eed to
e looked at, the pie es of DNA that ha e
spread through the gel are o ered ith
spe ial DNA pro es
A pro e is a pie e of DNA used to dete t
se ue es. The pro es are ade i the
la orator a d o tai a at h for the DNA
se ue e that the test is looki g for
The pro es i fa t ha e the opposite
se ue e to the se ue e ei g tested for.
The at h up e ause of the a ilit of the
leters A a d T, a d C a d G to pair ith ea h
other as sho i Figure 7.
If the perso s DNA o the gel o tai s the
at hi g se ue e, the pro e ill o i e
hy ridise) ith the perso s DNA at the site
of the at hi g se ue es
Che i als su h as luores e t d es are
ata hed to the pro es. Whe the gel is
exposed to a ertai t pe of light, the DNA o
the gel that has ee dete ted as o tai i g a
pari ular se ue e of leters ill sho up.
The re ai i g DNA ill ot e isi le
Whe a u er of difere t pro es are used
to dete t difere t repeats of se ue es, the
gel ill look like a series of a ds as sho i
Figure 7. . Ea h a d represe ts a site or
lo us o the o - odi g DNA at hi h a
spe ii repeated se ue e is lo ated
So e of the a ds appear darker tha others.
This is e ause that perso has the sa e
u er of repeated se ue es of leters o
ea h of their t o hro oso es here the
lo us is lo ated. The a d is sho i g the
sa e pater fro ea h hro oso e a d so
the t o a ds are l i g o top of ea h other
o the gel
A perso a o l e er ha e o e or t o a ds
for ea h pro e
I Figure 7. , Perso s a d ha e the sa e
a di g pater for pro e a d perso s
a d ha e the sa e pater for pro e .
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 Fa t Sheet 17 | FORENSIC, PATERNITY AND ANCESTRY DNA TESTING

Figure 7. : Ge eic tesi g to create a DNA i gerpri t of a perso .

Figure 7. : Usi g a pro e to detect a repeated se ue ce i the o -codi g DNA of a perso .

Figure 7. : DNA i gerpri ts of three people created usi g

seve difere t DNA pro es a ufactured i the la oratory.

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 Fa t Sheet 17 | FORENSIC, PATERNITY AND ANCESTRY DNA TESTING

That is h it is e essar to use a u er of These i lude:

difere t pro es to e a le difere iaio
Co se t for the sa ple
et ee difere t people

Methods of its olle io

The a ds at the oto of the gel represe t
shorter se ue es of leters tha at the top. Pro edures to e sure that it is ot
For exa ple, a a d at the top of the gel a o ta i ated fro the i e it is take to
represe t a se ue e of i e leters repeated he it is tested
i es so it ill e leters or ases lo g. Storage of the sa ple
At the oto the se ue e a e ade up
Its destru io ater tesi g a d
of o l four leters repeated i es so it ill
eo l leters or ases lo g. The pri a a d o ide ialit of the proile
These pater s of a ds ha e e o e k o as a ge erated.
perso s DNA ingerprint Figure 7. ). A Australia Federal Go er e t i uir
o du ted joi tl the Australia La efor
FORENSICS Co issio ALC a d the Australia Health
DNA i gerpri i g e a les at hi g of sa ples Ethi s Co itee AHEC i to the prote io of
ith a high pro a ilit fro ri e s e es ith Hu a Ge ei I for aio i Australia htp://
those of suspe ts i a ases. .alr .go .au/ exa i ed these issues a d
ade exte si e re o e daio s i its i al
I reasi gl DNA o tai ed fro ri e s e es is report Esse iall Yours o these aters.
irst he ked to see if it at hes ith DNA proiles
stored i data ases or data a ks. These
data ases o tai the DNA proiles o tai ed fro PATERNITY TESTING
o i ted ri i als, fro other ri e s e es a d I reasi gl DNA tesi g is ei g u dertake to
suspe ts. deter i e ater it , pater it or other fa il
relaio ships.
Fore si DNA data ases ha e ee esta lished i
a ou tries i ludi g the U ited Ki gdo , the U il re e tl , su h tesi g as pri aril pater it
U ited States, Ca ada, Ne )eala d a d i tesi g: that is, esta lishi g hether a a had
Australia. fathered a hild.
Paternity testing is based on:
Li itaio s a d o er s with DNA proili g a d A hild is a o i aio of the DNA of its
data ases other a d father

DNA i gerpri i g sill o l gi es a ha e or
Usi g DNA proiles of all the people i ol ed,
pro a ilit that t o sa ples are fro the sa e
usuall other, hild a d t o e
perso .
uesio i g their fatherhood, a pro a ilit
I fore si ases, the poli e usuall ha e DNA a e gi e for o e of the e ei g the
fro the ri e s e e a d are seeki g the ha e father

that there is a at h ith the DNA fro a A a a e ex luded as the father if he
suspe t. The are gi e a at h pro a ilit or does ot at h ith the hild o at least t o
the ha e that the t o sa ples at h. The lo i
higher the pro a ilit , the greater the ha e that
I lusio as a father is usuall ith 99.9%
the sa ples of DNA elo g to the sa e perso .
pro a ilit
There are a u er of o er s a out the use of
DNA aterial i the ourtroo a d the
esta lish e t of DNA data ases.

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 Fa t Sheet 17 | FORENSIC, PATERNITY AND ANCESTRY DNA TESTING

Co er s asso iated with Pater ity Tesi g I addiio , i di gs a out eth i it a e

Pater it is ote halle ged i ourt pro eedi gs difere t fro a i di iduals expe taio s as
he hild ai te a e, ustod , a d su essio hu a s ha e ixed ith difere t populaio s
to propert is a issue. The results of DNA throughout histor a d o se ue tl i di iduals
proili g ill o l e a le to e o sidered the a ha e a difere t ariaio s i their DNA.
Fa il Court if u dertake a la orator It is helpful to k o hat t pe of tesi g is ei g
a redited for pater it tesi g. u dertake for a estr to e sure tesi g ill
Pater it tests, ho e er, are o a aila le pro ide so e lues to the uesio s ei g asked.
o er iall , ail order a d through the Three t pes of ge ei a estr tesi g are
i ter et. o o l used:
This raises i porta t issues for o sideraio Y hro oso e tesi g YDNA tesi g :
i ludi g: This is used to explore a estr i the dire t ale

li e. Y hro oso e tesi g a o l e do e o

The i porta e of i for ed o se t oth
ales e ause fe ales do ot ha e a Y
pare ts for a sa ple to e take fro a hild
hro oso e. As the Y hro oso e passes do
Qualit o trol of the test u dertake al ost u ha ged fro father to so ariaio s or
The a aila ilit of ou selli g ater the test short ta de repeats STs i the Y
result a d hro oso e a i di ate hether fa ilies of the
Pri a of the i di iduals i ol ed, sa e sur a e are related.
pari ularl i relaio to ail order pater it Mito ho drial DNA tesi g tDNA tesi g :
tests. This t pe of tesi g ide iies ge ei ariaio s i
ito ho drial DNA a d is used to pro ide
ANCESTRY i for aio a out the dire t fe ale a estral
DNA tesi g has re e tl e o e popular for li e. Both ales a d fe ales ha e ito ho drial
people looki g for lues a out here their DNA a d this t pe of tesi g a therefore e
a estors ight o e fro a d a out used o oth sexes. Ho e er, ito ho drial DNA
relaio ships i fa ilies. is o l passed o the other a d therefore
tra ks the fe ale a estral li e o l .
Ge ei a estr tesi g looks at the le el a d
Autoso al DNA tesi g atDNA :
t pe of ge ei relaio ship et ee i di iduals.
These tests e aluate large u ers of ariaio s
As i other DNA tesi g, it a al ses repeats of
a ross a perso s e ire ge o e. The results are
DNA se ue es of leters or large u ers of
o pared ith those of others ho ha e take
ariaio s a ross the hole ge o e a d
the tests to pro ide a esi ate of a perso s
o pares the to data ases to look for
eth i a kgrou d. This t pe of test a e used
si ilariies.
e ause Y hro oso e a d ito ho drial DNA
A estr tesi g is ased o the fa t that: test results represe t o l si gle a estral li es,
Certai pater s of ge ei ariaio are ote a d do ot apture the o erall eth i a kgrou d
shared a o g people of pari ular of a i di idual. Ho e er results a sho so e
a kgrou ds ariaio s et ee fa il e ers.

Larger resear h studies are urre tl ei g

The ore losel related t o i di iduals,
o du ted s ie ists to explore the histor of
fa ilies, or populaio s are, the ore
populaio s as the arose, igrated, a d ixed
pater s of ariaio the t pi all share.
ith other groups.
A estry tesi g has a u er of li itaio s
A estr tesi g is o o l ofered as a o li e
test through pri ate o pa ies. As difere t
o pa ies o pare test results to difere t
data ases, eth i it a ot e o siste t.

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 Chromosome Microarray (CMA) Testing Guide Children and Adults
Adapted from: Palmer et al. Chromosome microarray in Australia: A guide for paediatricians. Journal of Paediatrics and Child Health 48 (2012) E59E67

1. Patient to undergo CMA testing, a genetic test which checks for DNA copy number variations, not including fragile X
2. Discussion of test process, limitations and counselling about variety of possible outcomes listed below
3. Blood sample collected (5-10ml in EDTA - Confirm sample requirements with local laboratory)
DOCTORS GUIDE

4. Possible laboratory findings include the following:

Diagnostic of known, Variant of unknown Variant with unexpected

No abnormality found
expected condition significance found implications found

Normal result or known,
benign change detected
Consider referral to a
genetics clinic if concerns
remain about a genetic
diagnosis or recurrence in
another pregnancy
No further testing required
at this stage
Known copy number variant
(CNV) identified
Consider referral to genetics
clinic for genetic counselling
No further testing required
at this stage
Copy number variant of
unknown significance
(VOUS) identified
Consider referral to genetics
clinic for interpretation of
report and diagnostic
review
Further testing such as
parental studies may be
useful
Copy number variant of
unexpected significance
identified
Consider referral to genetics
clinic for interpretation of
report and genetic
counselling
Further testing such as
parental studies may be
useful

For a more detailed fact sheet about CMA testing

or information about local genetic services see www.genetics.edu.au

Chromosome Microarray (CMA) Testing Guide - Children and Adults

INFORMATION FOR PATIENT or PARENTS

Adapted from: Palmer et al. Chromosome microarray in Australia: A guide for paediatricians. Journal of Paediatrics and Child Health 48 (2012) E59E67

1. CMA testi g is a ge eti test hi h he ks for extra or issi g seg e ts of a perso s DNA. DNA is the uildi g
block of our genes and it is important that there is the correct amount of DNA in each cell of the body for
or al health a d de elop e t. If there is extra or issi g DNA, the test results sho a variant is prese t
2. The test is carried out by collecting a small sample of blood
3. It is important that you discuss the possible test results with your doctor when you are considering a CMA test
4. Possible test results include the following:
Results show a DNA
Results show a DNA A DNA variant with
variant of unknown
No abnormality found variant which explains the unexpected implications
significance has been
concerns being tested for has been found
found
An extra or missing piece of
A normal balanced amount of DNA has been detected. An extra or missing piece of
DNA was found at this time. An extra or missing piece of DNA has been detected.
DNA has been detected The DNA imbalance (variant)
or is not a known cause of a The DNA imbalance (variant)
The DNA imbalance (variant) condition is known to be the cause of a
A known imbalance of DNA is known to be the cause of condition which you may not
(variant) was found which is the type of condition being Your doctor may need to have expected (e.g. CMA test
not usually the cause of a tested for. check if the imbalance is done for learning problems
health or developmental normal in your family by but result detects a DNA
problem. doing the same test on other variant related to heart
An appointment at the
family members such as disease).
genetics clinic may be
You or your doctor may recommended. parents.
consider referral to a genetics An appointment at the
clinic if you are still An appointment at the genetics clinic may be
concerned. genetics clinic may be recommended by your doctor
recommended. as well as further testing.

For a more detailed fact sheet about CMA testing

or information about local genetic services see www.genetics.edu.au