Difference between chromosome analysis vs genetic testing

texasmeg1

I sound like SUCH newbie with this question, but I need this explained to me in layman's terms.

Is my understanding correct - chromosome analysis will examine you and partner's chromosome structure to rule out balanced translocation while genetic testing is completely different. Something like Counsyl will determine if you are carrier for genetic diseases - and does not look at chromosomes?

How is MTHFR diagnosed? Through genetic test like counsyl or do they see that in chromosome analysis?

Sorry for sounding like an uneducated lady right now... thanks!

Laurakat81

You are right about the differences between chromosome analysis and genetic testing. As for MTHFR, I know it has nothing to do with chromosomes so I suppose it's just a genetic test. Any doctor can test for it. It's fairly routine at many OBs and most, if not all REs. They dont typically worry if the male partner has it just the mother.

luvboston

MTHFR is just a blood test that can be done anywhere, I had it today as a part of the m/c panel. Chromosome testing looks at the 23 chromosomes and 46 pairs of genes you have to see if you have translocations or to many of the same chromosome which would mean you could have a child with down syndrome. Genetic diseases looks at certain diseases that can be passed on for example marfan disease.

texasmeg1

Thanks for the clarification!