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Customer Service
For product ordering and shipping information, please visit the
SEND SAMPLES section of our site or call Client Services
866-262-7943.
Medical Professionals
For technical questions regarding the use of our products, please
contact Client Services
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Ambry Test®
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The content on this page is intended
for healthcare professionals. If you are a patient
researching testing options for a disease, we want you to
remember that all health information should be discussed
with your doctor.
 The
proprietary Ambry Test® combines scanning and sequencing
technologies to analyze a gene’s entire coding region
plus surrounding critical introns. Capable of identifying approximately
99% of all disease-causing mutations of the CFTR gene, the company’s
reputable Cystic Fibrosis test has an unrivaled detection rate
across all ethnic groups. The Company also created the world’s
first and only comprehensive genetic test for three principal
genes (PRSS1, SPINK1 and CFTR) associated with Chronic and Hereditary
Pancreatitis. Ambry Genetics’ most recent developments focus on diagnosis of pulmonary conditions, including Alpha-1-Antitrypsin Deficiency, Surfactant Protein B Deficiency, Surfactant Protein C Deficiency, and ABCA3-Related Surfactant Deficiency.
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 nonwaived testing. Although molecular
tests are highly accurate, rare diagnostic errors may occur.
The Ambry Test: Full Gene Analysis (FGA) analyzes the following
types of mutations: nucleotide substitutions, small deletions,
small insertions, and small indels. In addition, the Ambry Test:
Gross Del/Dup analyzes the following types of mutations: gross
insertions and gross deletions. Both methods technically could
miss gross rearrangement mutations 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 analysis cannot rule out the possibility that the tested
individual carries a rare unexamined mutation or mutation in
the undetectable group. A 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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