Massive parallel sequencing of dried umbilical cord remnants.

Abstract excerpt

Genetic diagnosis depends on having available tissue to test. This can be important for many reasons, such as related to familial diagnosis in the case of another pregnancy. When blood or DNA samples from affected family members are not available, accurate prenatal diagnosis may be much more difficult and hence additional effort may be needed to obtain a genetic diagnosis in such families. We report two families...

Topics

• Developmental Disabilities
• Female
• High-Throughput Nucleotide Sequencing
• Humans
• Infant
• Liver Diseases
• Male
• Membrane Glycoproteins
• Muscle Hypotonia
• Mutation
• Pregnancy