Molecular Genetic – آزمایش‌های فعال آزمایشگاه تشخیص طبی و تخصصی پیوند

Familial Mutation, Targeted Sequencing

Aicardi-Goutières Syndrome (6 genes)

Epilepsy > Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS) (4 genes)

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostics(33 genes)

Muscle Diseases > Newborn: “Floppy Infant“ (73 genes)

Muscle Disease with Ptosis / External Ophthalmoplegia (26 genes)

Angelman Syndrome & Differential Diagnoses (20 genes)

Polyposis Coli (7 genes)

MSI-micro satellite instability

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