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Specimen collection guidelines

Guidelines for Submission of Samples for Molecular Diagnostic Testing SAMPLE TYPE: Peripheral venous blood Amniotic fluid cells Amniocytes Chorionic villi Other clinical samples Peripheral venous blood Blood samples should be collected in EDTA tubes (purple/lavender top) and well mixed. In general, ...

Myotonic Dystrophy (DM1)

Molecular Diagnostics in Myotonic Dystrophy Myotonic dystrophy (DM) is the most common inherited adult neuromuscular disease. It is inherited as an autosomal dominant disorder with an estimated prevalence of about 1/8,000 in the Caucasian population. The gene is located at 19q13.3 and encodes myoton...

The Spinocerebellar Ataxias...

The Spinocerebeller Ataxias The spinocerebellar ataxias are a group of autosomal dominantly inherited ataxias with heterogeneous presentation. Characteristic CAG repeat expansions in the coding sequences at several loci have been detected for certain of these disorders. Hence, a direct DNA test can ...

Marfan Syndrome

MOLECULAR DIAGNOSTICS IN MARFAN SYNDROME The Marfan Syndrome (MFS1) is one of the most common inherited connective tissue disorders. It is inherited as an autosomal dominant and has a prevalence of about 1/10,000. It has been estimated that about 15 - 30% of sporadic MFS1 cases are due to new mutati...

PATERNITY TESTING

Comprehensive Genetic Services, SC INFORMATION ABOUT PATERNITY TESTING Paternity testing is a personal matter and we make every effort to maintain the confidential nature of the testing. The wait for paternity test results may be an anxious time. We hope the following information will provide answer...

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