Integrated Genetics

Westborough, MA, United States

Integrated Genetics

Westborough, MA, United States
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Encompass Compliance Corp. (OTC: ENCC) has been selected by one of the largest drug testing laboratories (Labs) to provide real time industry updates and Risk Shield Services to their respective customers. The official announcement will be made at DATIA May 16-18th. Read this and more news for Encompass Compliance at: http://marketnewsupdates.com/news/encc.html. This Lab provides products and services to over 200,000 companies. It is important to both the Lab and their customers that state specific compliance services are provided to keep up with the rapidly changing legal landscape. Millions of employers use lab based drug testing for THC, alcohol, cocaine, amphetamines, methamphetamines, opiates, benzodiazepines, propoxyphene, PCP, oxycodone, morphine, ecstasy, methadone, buprenorphine, barbiturates, to provide drug free workplaces. "Our offerings allow employers to properly follow state laws as they change and utilize our Risk Shield Service to update and maintain their compliance programs, for drug and alcohol testing in the workplace," says Encompass CEO Richard Sharp. Encompass Compliance Corp. is the most comprehensive provider of workplace drug and alcohol testing compliance services, with over 30 years of experience. We are dedicated to providing employers with the tools necessary to mitigate regulatory and compliance risk. Our solutions provide organizations with up to date policies, a comprehensive resource center and real-time monitoring for drug and alcohol testing orders. In other industry news and developments: Quest Diagnostics (NYSE: DGX), the world's leading provider of diagnostic information services, and PeaceHealth, a mission-based not-for-profit healthcare system, this week announced that they have completed a previously announced two-part agreement designed to enhance the delivery of innovative, convenient and high-value diagnostic information services to communities in Oregon, Washington and Alaska. This includes the acquisition by Quest Diagnostics of the outreach laboratory services of PeaceHealth Laboratories serving physicians and patients in Washington and Oregon. Quest also now begins to manage 11 laboratories serving PeaceHealth's medical centers in Washington, Oregon and Alaska. LabCorp® (NYSE: LH) yesterday announced a significant enhancement to its proprietary VistaSeqSM Hereditary Cancer portfolio, with ten new test panels focusing on the risk of specific hereditary cancer syndromes. The number of cancer genes that can be assessed has also increased to 59 to reflect advances in the understanding of cancer genetics since the panel was first introduced in August 2015. The VistaSeq Hereditary Cancer Panel detects inherited genetic mutations across multiple genes, which have been associated with an increased risk of developing hereditary cancers. The tests are available from LabCorp and its Integrated Genetics and Integrated Oncology specialty laboratories. Alere Inc. (NYSE: ALR), a global leader in rapid diagnostics, recently announced the launch of its Alere™ Malaria Ag P.f, a major technological breakthrough in high-sensitivity rapid testing versus currently available malaria RDTs (rapid diagnostic tests). The Alere Malaria Ag P.f offers a greater than tenfold improvement in the detection of histidine rich protein II (HRP-II) antigen of Plasmodium falciparum, which will enable better identification of individuals with very low parasitemia, many of whom may be without evident symptoms of malaria infection. Lantheus Holdings, Inc. (NASDAQ: LNTH), parent company of Lantheus Medical Imaging, Inc. (collectively, 'Lantheus'), and GE Healthcare (GE), recently announced the signing of a definitive license agreement (the 'definitive agreement') for the continued Phase III development and worldwide commercialization of flurpiridaz F 18, an investigational positron emission tomography (PET) myocardial perfusion imaging (MPI) agent that may improve the diagnosis of coronary artery disease (CAD), the most common form of heart disease. The definitive agreement follows the signing of a term sheet previously announced in late February 2017. DISCLAIMER: MarketNewsUpdates.com (MNU) is a third party publisher and news dissemination service provider, which disseminates electronic information through multiple online media channels. MNU is NOT affiliated in any manner with any company mentioned herein. MNU and its affiliated companies are a news dissemination solutions provider and are NOT a registered broker/dealer/analyst/adviser, holds no investment licenses and may NOT sell, offer to sell or offer to buy any security. MNU's market updates, news alerts and corporate profiles are NOT a solicitation or recommendation to buy, sell or hold securities. The material in this release is intended to be strictly informational and is NEVER to be construed or interpreted as research material. All readers are strongly urged to perform research and due diligence on their own and consult a licensed financial professional before considering any level of investing in stocks. All material included herein is republished content and details which were previously disseminated by the companies mentioned in this release. MNU is not liable for any investment decisions by its readers or subscribers.  Investors are cautioned that they may lose all or a portion of their investment when investing in stocks. For current services performed MNU has been compensated two thousand nine hundred dollars for news coverage of the current press release issued by Encompass Compliance Corp. by a non-affiliated third party. MNU HOLDS NO SHARES OF ANY COMPANY NAMED IN THIS RELEASE. This release contains "forward-looking statements" within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E the Securities Exchange Act of 1934, as amended and such forward-looking statements are made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. "Forward-looking statements" describe future expectations, plans, results, or strategies and are generally preceded by words such as "may", "future", "plan" or "planned", "will" or "should", "expected," "anticipates", "draft", "eventually" or "projected". You are cautioned that such statements are subject to a multitude of risks and uncertainties that could cause future circumstances, events, or results to differ materially from those projected in the forward-looking statements, including the risks that actual results may differ materially from those projected in the forward-looking statements as a result of various factors, and other risks identified in a company's annual report on Form 10-K or 10-KSB and other filings made by such company with the Securities and Exchange Commission. You should consider these factors in evaluating the forward-looking statements included herein, and not place undue reliance on such statements. The forward-looking statements in this release are made as of the date hereof and MNU undertakes no obligation to update such statements.


Encompass Compliance Corp. (OTC: ENCC) has been selected by one of the largest drug testing laboratories (Labs) to provide real time industry updates and Risk Shield Services to their respective customers. The official announcement will be made at DATIA May 16-18th. Read this and more news for Encompass Compliance at: http://marketnewsupdates.com/news/encc.html. This Lab provides products and services to over 200,000 companies. It is important to both the Lab and their customers that state specific compliance services are provided to keep up with the rapidly changing legal landscape. Millions of employers use lab based drug testing for THC, alcohol, cocaine, amphetamines, methamphetamines, opiates, benzodiazepines, propoxyphene, PCP, oxycodone, morphine, ecstasy, methadone, buprenorphine, barbiturates, to provide drug free workplaces. "Our offerings allow employers to properly follow state laws as they change and utilize our Risk Shield Service to update and maintain their compliance programs, for drug and alcohol testing in the workplace," says Encompass CEO Richard Sharp. Encompass Compliance Corp. is the most comprehensive provider of workplace drug and alcohol testing compliance services, with over 30 years of experience. We are dedicated to providing employers with the tools necessary to mitigate regulatory and compliance risk. Our solutions provide organizations with up to date policies, a comprehensive resource center and real-time monitoring for drug and alcohol testing orders. In other industry news and developments: Quest Diagnostics (NYSE: DGX), the world's leading provider of diagnostic information services, and PeaceHealth, a mission-based not-for-profit healthcare system, this week announced that they have completed a previously announced two-part agreement designed to enhance the delivery of innovative, convenient and high-value diagnostic information services to communities in Oregon, Washington and Alaska. This includes the acquisition by Quest Diagnostics of the outreach laboratory services of PeaceHealth Laboratories serving physicians and patients in Washington and Oregon. Quest also now begins to manage 11 laboratories serving PeaceHealth's medical centers in Washington, Oregon and Alaska. LabCorp® (NYSE: LH) yesterday announced a significant enhancement to its proprietary VistaSeqSM Hereditary Cancer portfolio, with ten new test panels focusing on the risk of specific hereditary cancer syndromes. The number of cancer genes that can be assessed has also increased to 59 to reflect advances in the understanding of cancer genetics since the panel was first introduced in August 2015. The VistaSeq Hereditary Cancer Panel detects inherited genetic mutations across multiple genes, which have been associated with an increased risk of developing hereditary cancers. The tests are available from LabCorp and its Integrated Genetics and Integrated Oncology specialty laboratories. Alere Inc. (NYSE: ALR), a global leader in rapid diagnostics, recently announced the launch of its Alere™ Malaria Ag P.f, a major technological breakthrough in high-sensitivity rapid testing versus currently available malaria RDTs (rapid diagnostic tests). The Alere Malaria Ag P.f offers a greater than tenfold improvement in the detection of histidine rich protein II (HRP-II) antigen of Plasmodium falciparum, which will enable better identification of individuals with very low parasitemia, many of whom may be without evident symptoms of malaria infection. Lantheus Holdings, Inc. (NASDAQ: LNTH), parent company of Lantheus Medical Imaging, Inc. (collectively, 'Lantheus'), and GE Healthcare (GE), recently announced the signing of a definitive license agreement (the 'definitive agreement') for the continued Phase III development and worldwide commercialization of flurpiridaz F 18, an investigational positron emission tomography (PET) myocardial perfusion imaging (MPI) agent that may improve the diagnosis of coronary artery disease (CAD), the most common form of heart disease. The definitive agreement follows the signing of a term sheet previously announced in late February 2017. DISCLAIMER: MarketNewsUpdates.com (MNU) is a third party publisher and news dissemination service provider, which disseminates electronic information through multiple online media channels. MNU is NOT affiliated in any manner with any company mentioned herein. MNU and its affiliated companies are a news dissemination solutions provider and are NOT a registered broker/dealer/analyst/adviser, holds no investment licenses and may NOT sell, offer to sell or offer to buy any security. MNU's market updates, news alerts and corporate profiles are NOT a solicitation or recommendation to buy, sell or hold securities. The material in this release is intended to be strictly informational and is NEVER to be construed or interpreted as research material. All readers are strongly urged to perform research and due diligence on their own and consult a licensed financial professional before considering any level of investing in stocks. All material included herein is republished content and details which were previously disseminated by the companies mentioned in this release. MNU is not liable for any investment decisions by its readers or subscribers.  Investors are cautioned that they may lose all or a portion of their investment when investing in stocks. For current services performed MNU has been compensated two thousand nine hundred dollars for news coverage of the current press release issued by Encompass Compliance Corp. by a non-affiliated third party. MNU HOLDS NO SHARES OF ANY COMPANY NAMED IN THIS RELEASE. This release contains "forward-looking statements" within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E the Securities Exchange Act of 1934, as amended and such forward-looking statements are made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. "Forward-looking statements" describe future expectations, plans, results, or strategies and are generally preceded by words such as "may", "future", "plan" or "planned", "will" or "should", "expected," "anticipates", "draft", "eventually" or "projected". You are cautioned that such statements are subject to a multitude of risks and uncertainties that could cause future circumstances, events, or results to differ materially from those projected in the forward-looking statements, including the risks that actual results may differ materially from those projected in the forward-looking statements as a result of various factors, and other risks identified in a company's annual report on Form 10-K or 10-KSB and other filings made by such company with the Securities and Exchange Commission. You should consider these factors in evaluating the forward-looking statements included herein, and not place undue reliance on such statements. The forward-looking statements in this release are made as of the date hereof and MNU undertakes no obligation to update such statements.


BURLINGTON, N.C.--(BUSINESS WIRE)--LabCorp (NYSE: LH), a leading global life sciences company, announced today that Integrated Genetics, a member of the LabCorp Specialty Testing Group, is presenting the results of nine studies relating to prenatal testing, including non-invasive prenatal testing (NIPT), and genetic counseling at the 36th Annual Conference of the National Society of Genetic Counselors, held Sept. 13-16 in Columbus, Ohio. Integrated Genetics also hosted a symposium addressing key factors in expanded carrier screening, which can better identify individuals and couples at increased risk for passing on certain inherited diseases. “The research we are presenting at this conference reflects the knowledge and experience gained from hundreds of thousands of prenatal cases handled over several decades by the specialists and genetic counselors of LabCorp and Integrated Genetics,” said Gary M. Huff, CEO of LabCorp Diagnostics. “We are a market leader in NIPT, women’s health and reproductive genetics, and we have the industry’s strongest team of genetic counselors to help patients and physicians understand what those test results mean. The depth and breadth of our team’s innovative research speak to how LabCorp’s scientific experience and expertise are helping to improve the delivery of care and produce better outcomes.” The research presented by LabCorp includes a novel study by primary author Denise Cutillo, vice president genetic counseling services of Integrated Genetics, that focuses on improving the quality of genetic counseling. The study, “The impact of a quality improvement program on genetic counseling,” demonstrates how a genetic counseling quality improvement program implemented by Integrated Genetics measurably benefitted patient care. Reflecting an analysis of over 37,000 patients who received reproductive genetic counseling from Integrated Genetics over a one-year period, the study showed that targeted training and tools, including simple-to-follow checklists, helped both new and experienced genetic counselors follow current standards of care in the rapidly changing field of reproductive genetics, providing patients and their physicians with the most up-to-date information to help guide care decisions. The program’s focus on patient care promotes excellence in the delivery of personalized genetic risk assessment and standardized patient care in a national program that supports tens of thousands of patients annually. Including the Cutillo study, LabCorp and Integrated Genetics are presenting nine posters at the conference: Beginning Sept. 19, copies of the posters will be available, free of charge, at www.IntegratedGenetics/WhyIntegratedGenetics/PostersandPublications. LabCorp also presented a symposium titled “Key Factors in Quality Expanded Carrier Screening: From Parental Testing to Prenatal Diagnosis.” The discussion focused on how to identify the most significant factors in quality expanded carrier screening, including clinically relevant tests, technology considerations, data analysis and interpretation, and prenatal diagnosis. It also included clinical scenarios in carrier screening to help participants better understand the optimal quality considerations to best support patient care. Presenters for the symposium were: Additional information about the conference is available at http://www.nsgc.org/conference. LabCorp (NYSE: LH), an S&P 500 company, is a leading global life sciences company that is deeply integrated in guiding patient care, providing comprehensive clinical laboratory and end-to-end drug development services. With a mission to improve health and improve lives, LabCorp delivers world-class diagnostic solutions, brings innovative medicines to patients faster and uses technology to improve the delivery of care. LabCorp reported net revenues of nearly $9.5 billion for 2016. To learn more about LabCorp, visit www.labcorp.com, and to learn more about Covance Drug Development, visit www.covance.com. This press release contains forward-looking statements about the Company’s future operations. Each of the forward-looking statements is subject to change based on various important factors, including without limitation, competitive actions in the marketplace, and adverse actions of governmental and other third-party payers. Actual results could differ materially from those suggested by these forward-looking statements. The Company has no obligation to provide any updates to these forward-looking statements even if its expectations change. Further information on potential factors that could affect operating and financial results is included in the Company’s Form 10-K for the year ended December 31, 2016, and subsequent Forms 10-Q, including in each case under the heading risk factors, and in the Company’s other filings with the SEC. The information in this press release should be read in conjunction with a review of the Company’s filings with the SEC including the information in the Company’s Form 10-K for the year ended December 31, 2016, and subsequent Forms 10-Q, under the heading MANAGEMENT’S DISCUSSION AND ANALYSIS OF FINANCIAL CONDITION AND RESULTS OF OPERATIONS.


Abrams L.,National Fragile X Foundation | Cronister A.,Integrated Genetics | Brown W.T.,Institute for Basic Research in Developmental Disabilities | Tassone F.,University of California at Davis | And 12 more authors.
Pediatrics | Year: 2012

Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers). The importance of early diagnostic and management issues, in conjunction with the identification of family members at risk for or affected by FMR1 mutations, has led to intense discussion about the appropriate timing for early identification of FMR1 mutations. This review includes an overview of the fragile X-associated disorders and screening efforts to date, and discussion of the advantages and barriers to FMR1 screening in newborns, during childhood, and in women of reproductive age. Comparison with screening programs for other common genetic conditions is discussed to arrive at action steps to increase the identification of families affected by FMR1 mutations. Copyright © 2012 by the American Academy of Pediatrics.


Nolin S.L.,New York State Institute for Basic Research in Developmental Disabilities | Sah S.,Asuragen | Glicksman A.,New York State Institute for Basic Research in Developmental Disabilities | Sherman S.L.,Emory University | And 12 more authors.
American Journal of Medical Genetics, Part A | Year: 2013

We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with 45-69 CGG repeats. The FMR1 repeat structure was determined for 375 mothers, 48 fathers, and 538 offspring (457 maternal and 81 paternal transmissions) using a novel PCR assay to determine repeat length and AGG interruptions. The number of AGG interruptions and the length of uninterrupted CGG repeats at the 3′ end were correlated with repeat instability on transmission. Maternal alleles with no AGGs conferred the greatest risk for unstable transmissions. All nine full mutation expansions were inherited from maternal alleles with no AGGs. Furthermore, the magnitude of repeat expansion was larger for alleles lacking AGG interruptions. Transmissions from paternal alleles with no AGGs also exhibited greater instability than those with one or more AGGs. Our results demonstrate that characterization of the AGG structure within the FMR1 repeat allows more accurate risk estimates of repeat instability and expansion to full mutations for intermediate and small premutation alleles. © 2013 Wiley Periodicals, Inc.


Langfelder-Schwind E.,Beth Israel Deaconess Medical Center | Karczeski B.,Johns Hopkins University | Strecker M.N.,CombiMatrix | Redman J.,Quest Diagnostics | And 7 more authors.
Journal of Genetic Counseling | Year: 2014

Purpose: To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated information about the natural history, diagnosis, and treatment of CF and related conditions. 2) Supplement genetic counselors' knowledge and understanding of the available carrier screening and diagnostic testing options. 3) Describe the current state of genotype/phenotype correlations for CFTR mutations and an approach to interpreting both novel and previously described variants. 4) Provide a framework for genetic counselors to assist clients' decision-making regarding CF carrier testing, prenatal diagnosis, and pregnancy management. Disclaimer The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge. In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population. Practice guidelines are published by NSGC for educational and informational purposes only, and NSGC does not "approve" or "endorse" any specific methods, practices, or sources of information. © 2013 National Society of Genetic Counselors, Inc.


Huang B.,Integrated Genetics | Huang B.,University of California at Irvine | Pearle P.,California Pacific Medical Center | Rauen K.A.,University of California at San Francisco | And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2012

Supernumerary marker chromosomes (SMC) are relatively common in prenatal diagnosis. As the clinical outcomes vary greatly, a better understanding of the karyotype-phenotype correlation for different SMCs will be important for genetic counseling. We present two cases of prenatally detected de novo, small SMCs. The markers were present in 80% of amniocyte colonies in Case 1 and 38% of the colonies in Case 2. The SMCs were determined to be derived from chromosome 6 during postnatal confirmation studies. Although the sizes and the chromosomal origin of the SMCs in these two cases appeared to be similar, the clinical outcomes varied. The clinical manifestations observed in Case 1 included small for gestational age, feeding difficulty at birth, hydronephrosis, deviated septum and dysmorphic features, while the phenotype is apparently normal in Case 2. Array comparative genomic hybridization (CGH) was performed and showed increase in dosage for approximately 26Mb of genetic material from the proximal short and long arms of chromosome 6 in Case 1. Results of array CGH were uninformative in Case 2, either due to mosaicism or lack of detectable euchromatin. The difference in the clinical presentation in these two patients may have resulted from the difference in the actual gene contents of the marker chromosomes and/or the differential distribution of the mosaicism. © 2012 Wiley Periodicals, Inc.


Wapner R.J.,Columbia University | Martin C.L.,Emory University | Levy B.,Columbia University | Ballif B.C.,Signature | And 20 more authors.
New England Journal of Medicine | Year: 2012

BACKGROUND:Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. METHODS:Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. RESULTS:We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. CONCLUSIONS:In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.) Copyright © 2012 Massachusetts Medical Society.


Devers P.L.,University of North Carolina at Chapel Hill | Devers P.L.,Verinata Health | Cronister A.,Integrated Genetics | Ormond K.E.,Stanford University | And 2 more authors.
Journal of Genetic Counseling | Year: 2013

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers' efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing. © 2013 National Society of Genetic Counselors, Inc.


Finucane B.,Genetic Services at Elwyn | Abrams L.,National Fragile X Foundation | Cronister A.,Integrated Genetics | Archibald A.D.,Victorian Clinical Genetics Services | And 2 more authors.
Journal of Genetic Counseling | Year: 2012

Fragile X syndrome (FXS) is one of several clinical disorders associated with mutations in the X-linked Fragile X Mental Retardation-1 (FMR1) gene. With evolving knowledge about the phenotypic consequences of FMR1 transcription and translation, sharp clinical distinctions between pre-and full mutations have become more fluid. The complexity of the issues surrounding genetic testing and management of FMR1-associated disorders has increased; and several aspects of genetic counseling for FMR1 mutations remain challenging, including risk assessment for intermediate alleles and the widely variable clinical prognosis for females with full mutations. FMR1 mutation testing is increasingly being offered to women without known risk factors, and newborn screening for FXS is underway in research-based pilot studies. Each diagnosis of an FMR1 mutation has farreaching clinical and reproductive implications for the extended family. The interest in large-scale population screening is likely to increase due to patient demand and awareness, and as targeted pharmaceutical treatments for FXS become available over the next decade. Given these developments and the likelihood of more widespread screening, genetic counselors across a variety of healthcare settings will increasingly be called upon to address complex diagnostic, psychosocial, and management issues related to FMR1 gene mutations. The following guidelines are intended to assist genetic counselors in providing accurate risk assessment and appropriate educational and supportive counseling for individuals with positive test results and families affected by FMR1-associated disorders. © 2012 National Society of Genetic Counselors, Inc.

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