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Latest News
December 2009
Genzyme Laboratory Recognized for Quality
Genzyme’s genetic testing laboratory in Phoenix, Arizona has obtained CAP 15189SM accreditation, becoming the first commercial genetic testing facility to achieve accreditation from the College of American Pathologists (CAP).
This accreditation is based on the International Organization for Standardization (ISO 15189 Standard) for laboratory technical competence and continual quality management and focuses on improved patient safety and risk reduction, outlining standards for quality and competence particular to medical laboratories.
“Achieving this accreditation demonstrates our commitment to achieving superior quality standards and delivering overall operational excellence,” said Jon Hart, senior vice president and general manager of Genzyme Genetics, the business unit of Genzyme Corporation focused on complex testing services for pathology, oncology, reproductive and genetic medicine. “Going through the rigorous and extensive accreditation process has allowed us to mitigate risk and continually provide highly accurate test results to physicians and patients nationwide.”
Read more about the accreditation.
November 2008
Carrier Screening for Spinal Muscular Atrophy
The autosomal recessive disorder proximal spinal muscular atrophy is a severe neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, which results in progressive proximal muscle weakness and paralysis. Visit the American College of Medical Genetics (ACMG) website for guidelines.
SMN1 Allele Frequencies in the Major Ethnic Groups within North America
Spinal Muscular Atrophy (SMA) is the most common inherited lethal disease of children. Various genetic deletions involving the loss of SMN1 exon 7 are reported to account for 94% of mutant alleles that convey this recessive trait. View the PDF.
December 2007
ACOG PRACTICE BULLETIN - CLINICAL MANAGEMENT GUIDELINES FOR OBSTETRICIAN–GYNECOLOGISTS, NUMBER 88, DECEMBER 2007
Invasive Prenatal Testing for Aneuploidy
Prenatal diagnosis of fetal chromosomal abnormalities is the most common indication for invasive prenatal testing.
Visit the American College of Obstetricians and Gynecologists (ACOG) website for guidelines.
January 2007
ACOG PRACTICE BULLETIN - CLINICAL MANAGEMENT GUIDELINES FOR
OBSTETRICIAN–GYNECOLOGISTS, NUMBER 77, JANUARY 2007
Replaces Practice Bulletin Number 27, May 2001, and Committee Opinion Number 296, July 2004
Screening for Fetal Chromosomal Abnormalities
In the past decade, numerous markers and strategies for Down syndrome screening have been developed. Algorithms that combine ultrasound and serum markers in the first and second trimesters have been evaluated. Furthermore, the practice of using age cutoffs to determine whether women should be offered screening or invasive diagnostic testing has been challenged.
Visit the American College of Obstetricians and Gynecologists (ACOG) website for guidelines.
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