Roughly 10% of fertility cases have a genetic etiology. Some patients have a combination of symptoms that does not allow for the hypothesis to be narrowed down to one particular underlying genetic cause. Performing numerous physical tests is costly and time-consuming. Most importantly, delayed diagnosis and treatment have a dramatic impact on a patient’s quality of life.
Genetic testing identifies chromosomal abnormalities and DNA mutations that correlate with various infertility related disorders. Typically genetic abnormalities are the cause of spontaneous abortions. In other cases an abnormal tests may indicate the possibility a baby will have a specific medical condition or disease when born.
lab Tests
- Bloom syndrome
- Canavan disease
- Cystic Fibrosis
- Familial dysauonomia
- Fanconi anemia group C
- Gaucher disease
- Niemann-Pick disease
- Tay-sachs disease
3 other less common diseases
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis (type IV)
- Glycogen Storage Disease (type 1a)
Other Tests
- Chromosome Analysis Karyotyping
- Cystic Fibrosis
- Fragile X Syndrome
- Preimplantation Genetic Diagnosis (PGD)
- Y Chromosome Microdeletion
