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FAQ: What is
the turnaround time for the Ambry Test:Pancreatitis?
Results are reported in 3-6 weeks.
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Pancreatitis
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 Pancreatitis
can be either acute or chronic. Many of the immediate
symptoms that indicate inflammation of the pancreas—such as
severe epigastric pain, maldigestion, and vomiting—are alike
for episodes stemming from either condition. However, all
clinical, histologic and functional characteristics of an
attack are resolved in acute pancreatitis once the disease
trigger has been removed, while chronic pancreatitis is a
progressive inflammatory disease leading to irreversible
pancreatic injury. Continued and elevated activity of
digestive enzymes in the pancreas results in permanent
tissue damage and scarring; in advanced stages of the
disease other conditions may develop such as diabetes
mellitus.1 Individuals
with chronic pancreatitis also have increased risk of
developing pancreatic cancer.2
Pancreatitis is a severe contributor to morbidity in
industrialized and developing countries worldwide.
The etiology of Chronic Pancreatitis is
diverse and risk factors can be stratified according to the
following categories.1
- Toxic metabolic—including the primary
cause of pancreatitis, alcoholism, but also hypercalcemia,
hyperlipidemia, drugs and toxins
- Idiopathic—including early or late
onset disease, and tropical pancreatitis
- Autoimmune
- Obstructive—including pancreatic
divisum, duct obstruction by tumors
- Recurrent and severe acute pancreatitis
- Genetic—including autosomal dominant
PRSS1 mutations and autosomal recessive CFTR, SPINK1 and
PRSS1 mutations3
In Chronic Pancreatitis, mutations may be
primary causes or potentiating factors that can determine
disease severity and progression.
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The Ambry Test®: Pancreatitis
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Genetic Testing can be a Powerful Tool
Aiding in the Diagnosis of Chronic Pancreatitis.
Gene mutations are significant factors in
chronic pancreatitis. Therefore, detecting a
pancreatitis-associated gene mutation can aid the diagnostic
process. Early diagnosis of pancreatic disease helps lead to
a more effective treatment. Providing patients with an
explanation of the cause of their disease can also improve
therapeutic choices and lifestyle compliance.
Mutations in three genes, the cystic
fibrosis transmembrane conductance regulator (CFTR) gene,
the cationic trypsinogen (PRSS1) gene, and the pancreatic
secretory trypsin inhibitor (SPINK1) gene, have been
identified as risk factors in with chronic pancreatitis.
Ambry Genetics offers the world’s only comprehensive genetic test to determine the disease’s cause, suggest appropriate treatments, and identify those at risk for developing chronic pancreatitis. The Ambry Test: Pancreatitis AMPLIFIED™ provides complete sequence analysis of PRSS1, CFTR and SPINK1. The test also analyzes the CFTR gene for gross deletions and duplications, when indicated, providing a detection rate of approximately 99% for each gene. The panel is available without the CFTR deletion/duplication analysis and each test is available separately.
Ambry Genetics Corporation has the
exclusive right to commercially practice the invention
claimed in U.S. Patent Number 6,406,846 that encompass
methods of genetic testing for susceptibility to hereditary
pancreatitis. The state of New York has approved Ambry’s pancreatitis testing services.
Testing of pancreatic patients at Ambry
Genetics to date has revealed:4
- At least one mutation was identified in 49% of patients
- 33% of patients carried one or more CF mutations
- 16.5% of patients had one or more mutations in the
SPINK1 gene
- Only 4.2% of patients had PRSS1 mutations only
- 8.9% of patients had mutations in more than one gene
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When
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- Chronic pancreatitis
- Idiopathic pancreatitis in
children or adults
- Recurrent unexplained
episodes of acute pancreatitis
- Family history of
pancreatitis
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Why
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- To distinguish a
hereditary form of pancreatitis from other causes, such as
from alcoholic pancreatitis
- To expedite diagnosis and
validate patients’ symptoms
- Risk assessment: To alert
individuals with genetically determined chronic
pancreatitis of their increased risk of developing
pancreatic cancer
- To provide a comprehensive
genetic diagnosis as an aid for proper therapy and basis
for the practice of preventative medicine
1
Etemad and Whitcomb (2001) Gastroenterology
Feb;120(3):682-707
2
Whitcomb (2004) Am J Physiol Gastrointest Liver Physiol.
287(2):G315-G319
3
Whitcomb (2004) Gut 53:1710-1717
4
Data on file at Ambry Genetics Corp
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Pancreatitis Materials
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Gene Report Volume 3
Genetic Testing can be a
Powerful Tool Aiding in the
Diagnosis of Chronic Pancreatitis
(Abobe PDF
document)
The Ambry Test: Pancreatitis
(Abobe PDF document)
General Test Information
The Ambry Test: PRSS1
(Abobe PDF document)
General Test Information
The Ambry Test: SPINK1
(Abobe PDF document)
The following CPT Codes for The Ambry
Test reflects Ambry Genetics’ interpretation of CPT coding
requirements based on AMA guideline:
Pancreatitis Panel (CFTR, PRSS1, SPINK1)
83891, 83894, 83898, 83903, 83904, 83909, 83912
Pancreatitis Panel AMPLIFIED (CFTR Amplified,
PRSS1, SPINK1)
83891, 83894, 83898, 83903, 83904, 83900, 83901,
83909, 83912
PRSS1 (PRSS1)
83891, 83894, 83898, 83903, 83904, 83909, 83912
SPINK1 (SPINK1)
83891, 83894, 83898, 83903, 83904, 83909, 83912
CPT codes are provided only as
a guide to assist you in billing. CPT coding is the sole responsibility
of the billing party.
Disclaimer:
This test was developed and its performance characteristics
were determined by Ambry Genetics Corporation. The laboratory
is regulated under the Clinical Laboratory Improvement Amendments
2003 as qualified to perform non-waived testing. The Ambry Test:
Pancreatitis analyzes the following types of mutations: nucleotide
substitutions, small deletions, small insertions, and small
indels, and the Ambry Test: CF-Amplified analyzes, in addition,
the gene’s gross deletion and duplication mutations. Neither
of the methods is intended to analyze the following types of
mutations: gross insertions, gross rearrangements, deep intronic
variations, and other unknown abnormalities. The pattern of
mutation types varies with the gene tested and the Ambry Test
detects a high but variable percentage of known and unknown
mutants of the classes stated. A negative result from the analyses
cannot rule out the possibility that the tested individual carries
a rare unexamined mutation or mutation in the undetectable group.
The Ambry Test: CF-FGA and CF-Amplified are designed and validated
to be capable of detecting ~97-98% and ~99% of CF mutations,
respectively (considering less than 1% being the other types
of mutations). The Ambry Tests: PRSS1 and SPINK1 are designed
and validated to be capable of detecting the mutations listed
above, as well as other previously described mutations, novel
variants, and polymorphisms. Chronic pancreatitis is a complex
clinical disorder, which on occasion is due to alterations in
the CFTR and/or PRSS1 and/or SPINK1 genes generally detected
by the Ambry Test: Pancreatitis except as noted above. Mutations
in other genes or the regions not tested by the Ambry Test:
Pancreatitis can also give rise to clinical conditions similar
or identical to chronic pancreatitis. Although molecular tests
are highly accurate, rare diagnostic errors may occur. Possible
diagnostic errors include sample mix-up, erroneous paternity
identification, technical errors, and genotyping errors. Genotyping
errors can result from trace contamination of PCR reactions,
from maternal cell contamination in fetal samples, from rare
genetic variants, which interfere with analysis, or from other
sources. This report does not represent medical advice. Any
questions, suggestions, or concerns regarding interpretation
of results should be forwarded to a genetic counselor, medical
geneticist, or physician skilled in interpretation of the relevant
medical literature. References are available upon request.
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