TNBC lacks ER, PR and HER2 receptors, so hormonal and HER2-directed therapies do not work. BRCA testing, metabolic targets and a recurrence signature are reviewed.
Screening for Factor V Leiden and other F5 variants flags people prone to clots, including women at risk of obstetric cerebral venous thrombosis during pregnancy.
Enlarged brain ventricles can raise pressure from cerebrospinal fluid buildup; ultrasound and MRI start the workup, with microarray or exome sequencing next.
When the body cannot break down very long-chain fatty acids, disorders such as adrenoleukodystrophy and Zellweger syndrome can follow, and DNA testing names the gene.
Recessive WDR35 mutations underlie Sensenbrenner syndrome, short-rib thoracic dysplasia and asphyxiating thoracic dystrophy; carrier and prenatal testing are explained.
Are you looking for a way to upload DNA to Ancestry? If so, you may have a difficult time. Find out why you're struggling to find the upload area here.
Without enough 17,20-desmolase, hormones driving male development fall short, so a 46,XY child may have ambiguous or female genitalia; DNA testing confirms it.
Rare CYP39A1 variants turn up more often in people with exfoliation syndrome, one result of altered eye structures that OCT and UBM imaging can show.