Comprehensive genetic evaluation

Do you or a loved one have a medical condition that could not be diagnosed? Do you have a family history of a genetic disease? Do you have signs and symptoms that affect your life? If so, you may have a genetic mutation underlying your problems.

At Precision Medicine Insights, Dr. Akler will conduct a comprehensive evaluation to potentially determine the root causes of your problems on a genetic level. Dr. Akler specializes in all genetic conditions including: 

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• Mendelian disorders (both congenital and adult onset)

• Various syndromes 

• Dysmorphologies

• Chromosomal abnormalities (e.g. Trisomies such as Down syndrome, Turner syndrome or conditions caused by copy number variations in your genome)

• Conditions causing intellectual disability

• Conditions affecting hearing or vision

• Metabolic conditions (e.g. Phenylketonuria, Maple syrup urine disease, Urea cycle disorders etc.)

• Lysosomal storage disorders (e.g. Tay-Sachs disease, Gaucher disease, Pompe disease etc.)

• And More