Download Pancreatitis Genetic Testing

Pancreatitis Genetic Testing
Chronic pancreatitis (CP) is characterized by recurring inflammatory attacks
that gradually cause irreversible and life-threatening damage to the pancreas
and surrounding tissue.1,2 Alcoholism and other environmental factors
are the primary cause of CP, but in 20% of cases no environmental cause
is found. Of these, genetics may play a major role. 3 Familial pancreatitis
is defined as pancreatitis from any cause, which occurs in a family more
frequently than would be expected by chance alone; its cause may be
non-genetic or genetic.1 Hereditary pancreatitis is defined as either two or
more individuals with pancreatitis in two or more generations of a family,
or that associated with a germline disease-causing gene mutation.
Hereditary pancreatitis may begin in childhood. Patients with CP are at
increased risk of diabetes and pancreatic cancer.1, 2 Understanding one’s risk
of developing CP can help people adjust their lifestyles to dramatically reduce
their risk of CP and associated health problems.
Hereditary pancreatitis is most commonly caused by mutations in four genes (listed
below). It can also occur as part of other inherited conditions, like Shwachman-Diamond
syndrome.
PRSS1 is the most common gene associated with hereditary pancreatitis. PRSS1 mutations
are found in at least 60% of families with hereditary CP.1
Mutations in SPINK1, CFTR, and CTRC are also associated with susceptibility to pancreatitis
though penetrance and expressivity are highly variable. 5
Monoallelic mutations in these genes may result in a pancreatitis phenotype on their
own or may contribute to and modify the phenotype when inherited in combination with
pathogenic mutations in other genes. 3 Biallelic mutations within the same gene may result
in a more severe pancreatitis phenotype.
We offer comprehensive testing for CP that features next generation sequencing (NGS).
Pancreatitis Panel: includes NGS of PRSS1, SPINK1, CTRC, CFTR
Individual sequencing of PRSS1, SPINK1, CTRC, and CFTR, is available. Specific Site Analysis
of mutations identified previously in a family member is also available.
OPTIMIZED TEST DESIGN
Our tests are created to maximize
yield, minimize turnaround time and
control costs through step-wise testing
when appropriate.
INSURANCE
We are contracted with the majority
of health plans and Medicare. All outof-network patients are treated as innetwork to minimize out-of-pocket costs.
Medicaid coverage varies by state and
preverification is recommended.
PATIENT PROTECTION PLAN
Ambry’s billing policy is to preverify
insurance coverage (with or without patient
sample) for genetic testing. We will contact
the patient after their sample is received,
if their out-of-pocket cost is estimated
to exceed $100. We are committed to
working with you and your patients to
make the genetic testing process as simple
and cost-effective as possible, and our
Billing Department is available to answer
any questions your patient may have.
Our Billing Department can be reached
by phone at +1-949-900-5795 or
[email protected].
CLINICAL SUPPORT
Board-certified physicians and genetic
counselors are available to assist with test
selection and result interpretation.
CUSTOMER SERVICE
Responsive, knowledgeable representatives
are always ready to answer your questions.
We also offer easy-to-read result reports
and complimentary sample submission kits
to make the testing process smoother.
ABOUT AMBRY GENETICS
Ambry is a genetics-based healthcare
company that is dedicated to open
scientific exchange so we can work
together to understand and treat all
human disease faster.
Pancreatitis Genetic Testing
benefits of testing
specimen requirements
Genetic testing for pancreatitis can facilitate:
Blood: Collect 3-5cc from adult or 2cc minimum from child into
EDTA purple-top tube (preferred) or ACD yellow-top tube.
Store at room temperature or refrigerate.
Ship at room temperature.
• Providing targeted therapy
Gene mutations may cause different symptoms, and
specific treatments are available based on genetic test
results. Results can also help guide recommendations
for surveillance and reducing exposure to risk factors
(like smoking and alcohol intake).
• Helping your patient understand his/her condition
and increase compliance
Knowledge of the diagnosis helps a patient understand his
or her symptoms, reinforces understanding of its chronic
nature, and emphasizes the importance of maintaining
dietary and lifestyle modifications.
• Helping communicate inheritance risk
Sharing test results with family members can help reduce
their risk of developing chronic pancreatitis. Guidelines
suggest testing for children may also be warranted, given
the possible early onset of symptoms.4
• Avoiding repeated diagnostic testing
Saliva: Fill 1 tube (2 tubes for pediatric patients) with saliva up
to black line (1cc of saliva) in Oragene Self Collection container.
Close tube; 1cc of buffer will mix with saliva for a total volume of
2cc. Store at room temperature in sterile bag. Shipment: Room
temperature for two-day delivery.
DNA: 20 μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA);
preferred 200 μl at ~100 ng/μl conc.
Please provide DNA OD 260-280 ratio (preferred 1.7-1.9) and
send agarose picture with high mw genomic DNA, if available.
Store at -20°C. Ship frozen on dry ice (preferred) or ice.
Blood Spot: Minimum of one complete spot ~0.5 inches in
diameter on S&S 903 collection paper or similar. Store in sterile
bag at room temperature. Ship at room temp for 2-day delivery.
Prenatal: Prenatal testing is available. Please call an Ambry
genetic counselor to discuss your case.
NOTE: Complete specimen requirements can be found at
ambrygen.com/specimen-requirements.
our pancreatitis genetic testing options
TEST CODES
TECHNIQUE
8022
Pancreatitis Panel: NGS of PRSS1, SPINK1, CTRC, CFTR
1100
PRSS1 gene sequence
1120
SPINK1 gene sequence
1660
CTRC gene sequence
1000
CFTR gene sequence
1440
SBDS gene sequence (Shwachman-Diamond syndrome)
Call or visit ambrygen.com
Specific Site Analysis for a familial mutation
Please visit ambrygen.com for more information, including turnaround times.
Full gene sequencing of CFTR, PRSS1, SPINK1, CTRC and gross deletion/duplication analyses of CFTR may be ordered individually,
or in any combination. Our Pancreatitis Panel can detect >99.9% of described mutations in the included genes, when present
(analytic sensitivity).
references
1. LaRush, J et al. Pancreatitis Overview. GeneReviews. 2014. Pagon RA, Adam MP, Ardiner HH et al., editors. Seattle (WA): University of Washington, Seattle;
1993-2014.
2. Whitcomb DC. Genetics of pancreatitis: an update for clinicians and genetic counselors. Curr Gastroenterol Rep. 2012 Apr;14(2):112-7.
3. Mason E, et al. A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: Data from a comprehensive analysis of PRSS1, SPINK1, CTRC
and CFTR genes in 253 young French patients. PLoS One. 2013 Aug 8;8(8):e73522.
4. Ellis I, et al. Genetic testing for hereditary pancreatitis: guidelines for indications, counselling, consent and privacy issues. Pancreatology. 2001;1(5):405-15.
5. Rosendahl J, et al. CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated? Gut. 2013 Apr;62(4):582-92.
PTINFOSHT
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15 Argonaut, Aliso Viejo, CA 92656 USA
Toll Free +1 866 262 7943
Fax +1 949 900 5501
ambrygen.com