1. health and fitness
2. disorders

THE
LEADER
IN
GENETIC
TESTING
SERVICES
FOR
Complete Ataxia Evaluation
Autosomal Dominant
Ataxia Evaluation
Autosomal Recessive
Ataxia Evaluation
Friedreich’s Ataxia Evaluation
Complete Ataxia-Telangiectasia
(ATM) Evaluation
Efficiency, Economy, Certainty
ATAXIA
Ataxia Testing That Makes a Difference.
Why Test?
Athena Diagnostics® has developed a growing portfolio of ataxia
genetic tests with logically-constructed panels. Organized by mode
of inheritance, Athena’s diagnostic toolset can help efficiently
pinpoint a hereditary ataxia diagnosis.
Despite similar phenotypes, prognosis can vary greatly.
Only testing can help guide the most appropriate treatment.
Establishing a specific underlying cause can:
• Specify a diagnosis from among a group of clinically similar
genetic conditions1
Patient presents with gait imbalance and limb incoordination,
including problems with gross and fine motor control
• Facilitate consideration of genetic risk to other family members
Athena Diagnostics continually expands its Ataxia product
line, including the newest tests for SCA12 and SCA28 to meet
physicians’ diagnostic needs
Exclusion of non-genetic causes—alcoholism, vitamin deficiencies, MS,
vascular disease, primary or metastatic tumors, paraneoplastic diseases
Uncertain or absent
family history of Ataxia
Family history suggests
Autosomal Dominant
inheritance
Family history suggests
Autosomal Recessive
inheritance
Complete
Ataxia Evaluation
#696
Autosomal Dominant
Ataxia Evaluation
#697
Autosomal Recessive
Ataxia Evaluation
#693
SCA1
• SCA12 testing may be recommended as routine screening
in all ataxic patients2
• SCA28 gene mutations account for at least 3 percent of
SCAs with an unknown cause3
• SCA12 and SCA28 increase the sensitivity of Athena’s
Autosomal Dominant and Complete Ataxia Evaluations
by ~ 4 percent
SCA2
SCA3
SCA5
SCA6
SCA7
SCA8
SCA10
Athena Evaluation Panel
Complete Ataxia Evaluation #696
Autosomal Dominant Ataxia Evaluation #697
Autosomal Recessive Ataxia Evaluation #693
Friedreich’s Ataxia Evaluation #349
Complete Ataxia-Telangiectasia (ATM) Evaluation #353
Ataxia
Unsteady gait
Seizures
Myoclonus
Choreoathetosis
Chorea
Dysarthria
Widespread cerebellar and brainstem dysfunction
Pyramidal signs
Cognitive impairment
Mental retardation
Dementia
Cerebellar atrophy
Neuropathy
Areflexia
Hyperreflexia
Babinski reflex
Muscular atrophy/weakness
Parkinsonism
Dystonia
Sensory loss
Vibratory loss
Hearing loss
Vision loss
Slow Saccades/Nystagmus
Oculomotor apraxia
Oculocutaneous telangiectasia
Ophthalmoparesis
Cataract
Dysphagia
Cardiomyopathy
Diabetes mellitus
Short stature
Frequent infections
Susceptibility to cancer
SCA12
S
NEW
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Disease Duration/Prognosis (in Years)
10 – 30
10 – 15
6 – 29
Normal
Lifespan
Normal
Lifespan
Varies
Normal
Lifespan
Varies
Normal
Lifespan
N
Li
Clinical Sensitivity2
> 99%
~ 100%
100%
88%5
99%
~ 100%
~ 100%
100%
> 95%
U
Ataxia Testing Services from Athena Diagnostics
Offer Efficiency, Economy and Certainty
The primary benefit of genetic testing for an ataxic patient is that it can quickly provide a specific and
accurate diagnosis. For example, an SCA gene test in a patient whose symptoms are consistent with
a genetic form of ataxia, but whose family history is uncertain or absent, can confirm the clinical
diagnosis with efficiency, economy and certainty.
1
Our panels offer testing for the most common ataxia disease causing genes, and individual gene
tests allow for customization and flexibility.
Efficiency: The Complete Ataxia Evaluation can quickly confirm a clinical diagnosis from a group
of ataxic conditions with similar phenotypes.
Economy: The cost of an Ataxia panel is equivalent to that of an MRI.4 Gene tests are sensitive
and specific, whereas an MRI is not.
Certainty: An accurate genetic diagnosis puts an end to a quest for an underlying cause, allows
for informed discussions and can optimize treatment decisions to enhance patient outcomes.
SCA13
SCA14
SCA17
SCA28
DRPLA
Friedreich’s Ataxia
(FRDA)
APTX
SETX
TTPA
SIL1
POLG1
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Ataxia-Telangiectasia
(ATM)
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Normal
ifespan
Normal
Lifespan
>8
Decades
Varies
Death usually in mid-30s for
childhood onset; variable for
late onset
5 – 58
2 – 15
Decades
Decades
Varies
Median: 20 years
Range: 15 – 30 years*
nknown
Unknown
100%
Unknown
100%
~ 100%
Unknown
Unknown
> 90%
60%
> 95%
> 95%
*Early age of onset correlates with shorter disease duration.
Comprehensive Services from Athena Diagnostics
Athena InsightTM
Athena Insight is a powerful bioinformatic service that is included with every DNA sequencing test ordered. Our technical
comprehensive analysis of variants of unknown significance determines the likelihood of variants being benign or pathogenic.
A complete synopsis of research data and findings is presented in clear and concise clinical terms enabling the physician to
utilize this enhanced report with patients and family members during discussions relative to diagnosis, treatment, patient
management and family planning.
Genetic Counselors at Your Service
Genetic Counselors can provide information on the nature, inheritance and implications of genetic disorders to help the
physician guide the patient and family in making informed medical and personal decisions.
Athena’s Comprehensive Test Menu for Ataxia
Test
Code
Test Name
Test
Code
Test Name
696
Complete Ataxia Evaluation
284
SCA13 Full-Gene DNA Sequencing
697
Autosomal Dominant Ataxia Evaluation
593
SCA14 Full-Gene DNA Sequencing
349
Friedreich’s Ataxia Evaluation
388
SCA17 PCR Expansion
693
Autosomal Recessive Ataxia Evaluation
673
SCA28 Full-Gene DNA Sequencing
353
Complete Ataxia-Telangiectasia
(ATM) Evaluation
401
DRPLA PCR Expansion
371
SCA1 PCR Expansion
119
FRDA/FNX Expansion
672
SCA2 PCR Expansion/Short
Tandem Repeat (STR)-Primed PCR
348
FRDA/FNX Full-Gene
DNA Sequencing
105
SCA3 PCR Expansion
493
APTX Full-Gene DNA Sequencing
675
SCA5 Full-Gene DNA Sequencing
594
SETX Full-Gene Sequencing
373
SCA6 PCR Expansion
283
TTPA (AVED) Full-Gene Sequencing
677
SCA7 PCR Expansion/STR
282
SIL1 (MSS) Full-Gene Sequencing
384
SCA8 PCR Expansion/Southern Blot
383
POLG1 (MIRAS) Targeted
DNA Sequencing
387
SCA10 PCR Expansion Pulse Field
351
ATM DNA Sequencing
285
SCA12 PCR Expansion
352
ATM DNA Duplication/Deletion
Client Services Representatives are available from 8:30am to 6:30pm
Eastern Time (U.S.). Customers in the U.S. and Canada please
call toll free 800-394-4493 or visit us on our website
at AthenaDiagnostics.com.
Testing that Makes a Difference.
References: 1. Paulson, H.L., The Spinocerebellar Ataxias. J Neuro-Ophthalmol 2009; 29(3):227-237. 2. Brussino, Alessandro, et. al., Spinocereballar Ataxia Type 12 Identified
in Two Italian Families May Mimic Sporadic Ataxia, Movement Disorders 2010; 25(9):1269-1291. 3. Di Bella, D., et. al., Mutations in the mitochondrial protease gene AFG3L2
cause dominant hereditary ataxia SCA28, Nature Genetics 2010; 42(4):313-321. 4. Bird, Thomas D., Hereditary Ataxia Overview, GENE Reviews, 1998/2009. 5. Maschke, M.,
et. al., Clinical Feature Profile of SCA Type 1-8 Predicts Genetically Defined Subtypes. Movement Disorders 2005; dio10.1002/mds/20053.
©2013 Athena Diagnostics, Inc. Athena Diagnostics and the Athena Diagnostics logo are registered trademarks of Athena Diagnostics, Inc.
Athena Insight is a trademark of Athena Diagnostics, Inc.
ADX357SG-3/13AK-REV06