Oh the wonders of the NHS

[emkana]

Ds is supposed to be tested for hypochondroplasia.

It's a blood test, looking for a gene mutation, if I've understood it right.

Having looked at some German sites it said results would take two weeks.

Geneticist here said up to 6 months, but didn't explain why. Today I saw the consultant at the hospital and she explained it to me: Samples are not tested as they come in, but they wait until a batch of samples has built up, then they test them all together.

Sigh....

On the plus side, the new consultant is lovely, much nicer than the old one, and she was very impressed with ds.

bump

Surely some test must be urgent? Does your son not feel well?

so any idea on when it will be done?

i get confused with all the 'plasias', which one is it they are looking at? what will it mean for ds?

It's not really urgent, it doesn't really affect his treatment atm.

Hypochondroplasia is just a type of dwarfism, one of the milder forms.

When it will be done... who knows. The geneticist said in Dec it could take up to six months.

My dp is a clinical biochemist (one of the scientist-types in NHS labs) and I know from his work that most NHS blood/body fluid tests are done on giant, huuugely expensive machines. If this is the case with your ds's test, and given that it's not urgent, it's probably just an economies-of-scale thing - NHS can't afford to run millions of individual tests instead of waiting for full batches.

Doesn't stop it being a PITA for you, though.

There is a massive cost involved just in setting up the machine, and in the test kits that are used. It is a real shame that laboratories cannot collaborate and put all their rare/infrequent tests together to be done in one centre. The way the NHS is run now, though means that it is just too difficult to organise.

It is hard for people waiting for results.

Thanks for the explanation.

The problem is the German side of my family, coming from there they just can't understand why things work so differently here.