Indications for Genetic Testing in Adults

 Personal History of:

1. Abnormal sexual maturation or delayed puberty

2. Recurrent pregnancy losses (more than 2)

3. Tall or short stature for genetic background

4. One or more birth defects

5. Six or more café-au-lait macules > 1.5 cm in diameter

6. Cognitive delay, developmental delay or autism spectrum

Personal or Family History of:

1. A cancer or cancers known to be associated with specific hereditary genes or mutations such as breast, ovarian, uterine, kidney, medullary thyroid cancer, paraganglioma/pheochromocytoma, sarcoma and colorectal.

2. Cardiovascular problems known to be associated with genetic factors such as cardiomyopathy, arrhythmias such as long QT or Brugada syndrome, hyperlipidemia, aortic dilation or dissection/aneurysms. 

3. Suspected genetic disorder affecting connective tissues such as Marfan, Ehlers-Danlos or Loeys-Dietz syndromes

4. Hematologic condition associated with excessive bleeding or excessive clotting

5. Progressive neurologic conditions such as peripheral neuropathy, unexplained myopathy, progressive ataxia, early onset dementia, and a familial movement disorder 

6. Visual loss known, or suspected, to be associated with genetic factors such as retinitis pigmentosa, Leber congenital amaurosis, Stargardt disease, early-onset macular degeneration, and cataracts 

7. Early-onset hearing loss or vestibular schwannomas

8. Recognized genetic conditions including a chromosomal or single-gene disorder 

Family History of:  

1. A close relative with sudden, unexplained death, particularly at a young age