Medical Genetics - Procedures

Procedures

Evaluation of rare diseases and undiagnosed conditions -Genetic diagnosis in developmental delay, autism, intellectual disability -Identifying cause of recurrent pregnancy loss & infertility -Diagnosis of inborn errors of metabolism (IEM) in children -Genetic workup for unexplained neurological disorders

Maternal & Fetal Medicine Integration -Antenatal genetic counseling -Screening & diagnosis of chromosomal abnormalities (e.g., Down syndrome) -NIPT, CVS, amniocentesis guidance -Fetal anomaly evaluation with genetic correlation 

Preventive & Predictive Care -Carrier screening (thalassemia, SMA, etc.) -Premarital & preconception counseling -Risk prediction for hereditary cancers (breast, colon, etc.) -Family screening & cascade testing 

Precision Medicine & Specialty Integration