Available Tests

PGD Technology identifies genetic abnormalities in embryos. Chromosomal abnormalities and single gene defects in early embryonic cells are analyzed at SRM for Preimplantation Genetics laboratory using sophisticated techniques. These include fluorescence in situ hybridization (FISH) to determine proper structure for all chromosomes and the appropriate number for chromosomes 13, 14, 15, 14 ,16, 17, 18, 21, 22, X, Y and DNA analysis to identify single gene defects. Due to the complex technology and expertise involved, there are relatively few PGD Programs in the United States. Fortunately, PGD is an option for anyone in need (if IVF is available) regardless of where you live.

PGD and Genetic Disorders (partial list of available tests)

Aneuploidy

• Chromosomal Abnormalities
• Chromosomes 13, 14, 15, 16, 17, 18, 21, 22, X and Y
• Down syndrome
• Turner syndrome
• Kleinfelter syndrome

Structural Abnormalities

• Translocations
• Inversions
• Deletions
• Duplications

Y Chromosome Deletions

Uniparental Disomy (UDP)

• Genomic imprinting

Inherited Single - Gene Disorders

• X linked
• Fragile - X
• Duchenne/Becker's muscular dystrophy
• Hemophilia
• Autosomal Dominant
• Mytonic dystrophy
• Huntington's disease
• Charcot-Marie-Tooth
• Autosomal Recessive
• Cystic fibrosis
• Thalassemia
• Spinal muscular atrophy

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