Pathology & Clinical Laboratory Medicine
LABORATORIES & TESTS
Molecular Genetics Laboratory: Diagnostic Tests
• Achondroplasia G380R mutation of FGFR3
• Cystic fibrosis mutation screen
• Fragile-X syndrome
• Hemoglobin S, C, E, D
• Medium chain acyl Co-A dehydrogenase deficiency
• Prader-Willi/Angelman syndrome
• Spinal muscular atrophy Types 1, 2, and 3
• UPD chromosome 7
• Y microdeletions
Referral
Please contact your physician for a referral.
For results, contact your physician or genetic counslor.
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