Effective immediately, due to low test utilization and the high cost of maintaining proficiency, the following FISH tests will no longer be offered:
• Prader-Willi/Angelman (15q11-q13) by FISH
Recommended test is Angelman/Prader-Willi mPCR
• Smith Magenis (17p11) by FISH
• Williams (7q11,23) by FISH
If need arises for this test, please place an order for a Send out Genetics Miscellaneous and enter requested test in the comments. The testing will be sent out through Spectrum Health.
Any questions about referral testing may be directed to the Referral Department. Any questions or concerns regarding these changes may be directed to Dr. Salah Ebrahim in the Cytogenetics Laboratory.
MTHFR C677T [LAB7390], the methylenetetrahydrofolate reductase mutation analysis, is being discontinued as an obsolete test.
The American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG) have determined that MTHFR C677T testing has minimal clinical utility. Current testing recommendations indicate that this test should not be ordered as part of a routine evaluation for thrombophilia or adverse pregnancy outcomes.
Effective May 20, 2019, Spectrum Health Regional Laboratory Cytogenetics Department is pleased to announce the launch of a new microarray platform AffymetrixTM Cytoscan® HD. The Affymetrix Cytoscan HD is designed for the accurate and comprehensive analysis of chromosomal variants in the human genome.