DNA almost complete

[Guest guest]

Hi everyone.

This is the reply I got from Ambry. Caden's genotyping is almost complete. I am

anxious to get the results.

Also, what exactly is the sequencer? The testing has stages?

Krystena s

*******************************************************************

Your son's sample is about to enter the sequencer. That is the final stage in

the lab, then our Genetic Counselor will review the results and write the

report, then our Medical Director will review, sign and release. I 'd say it

will probably be done by Friday, maybe sooner.

[Guest guest]

Hi Krystena,

I assume that Ambry first looks for the most common mutations and then goes

to the rarer ones. Furtheron I assume that they haven't found anything so

far (or only one mutation) and now they are sequencing the whole gene (that

means to check every single amino acid) to look for anomalities. So yep, the

testing has stages.

Regarding your other message about your pregnancy I am very surprised that

you expect the results within 3 days. We were told that a CVS can be done

not earlier than at 12 weeks, that the results take another ten days and

that another blood test is necessary after 14 weeks to check for spina

bifida. Are the US docs so much in front of the european ones or have we

been misinformed?

Peace

Torsten, dad of Fiona 5wcf

e-mail: torstenkrafft@...

[Guest guest]

Hi Krystena,

I assume that Ambry first looks for the most common mutations and then goes

to the rarer ones. Furtheron I assume that they haven't found anything so

far (or only one mutation) and now they are sequencing the whole gene (that

means to check every single amino acid) to look for anomalities. So yep, the

testing has stages.

Regarding your other message about your pregnancy I am very surprised that

you expect the results within 3 days. We were told that a CVS can be done

not earlier than at 12 weeks, that the results take another ten days and

that another blood test is necessary after 14 weeks to check for spina

bifida. Are the US docs so much in front of the european ones or have we

been misinformed?

Peace

Torsten, dad of Fiona 5wcf

e-mail: torstenkrafft@...

[Guest guest]

Hi Krystena,

I assume that Ambry first looks for the most common mutations and then goes

to the rarer ones. Furtheron I assume that they haven't found anything so

far (or only one mutation) and now they are sequencing the whole gene (that

means to check every single amino acid) to look for anomalities. So yep, the

testing has stages.

Regarding your other message about your pregnancy I am very surprised that

you expect the results within 3 days. We were told that a CVS can be done

not earlier than at 12 weeks, that the results take another ten days and

that another blood test is necessary after 14 weeks to check for spina

bifida. Are the US docs so much in front of the european ones or have we

been misinformed?

Peace

Torsten, dad of Fiona 5wcf

e-mail: torstenkrafft@...