genetic carrier screening ?

[ekaterin]

So I'll say upfront that I realize I'm likely at the edge of paranoid FTM behavior...no need to point that out excessively : )

My OB's office recommends carrier screening for all patients (Fragile X, SMA, CF), but my insurance won't cover any of it.  The OB's tests run just under 2k.  We can afford this, but it cuts deeply into my baby e-fund. I found a cheaper option (a universal screen rather than separate tests), but it requires going to another doctor (MFM - OB said they'd refer me if I wanted).  DH thinks we don't need any testing since we have no family history and these issues are rare, but he's fine with whatever I want to do.  I know someone with a child who has a genetic disorder that will eventually kill him, so I'm reluctant to skip out on the testing despite the low risk.

So - does anyone have stories about whether or not they did the testing?  Was it worth it to you for the relative peace of mind? Would it be ridiculous to get a referral to MFM just so I can get a cheaper screening test?  Any thoughts on this would be welcome.

[Bonita]

Do you know who the test is through?

We did the Carrier Screen through Counsyl (www.counsyl.com), and if your insurance doesn't cover the cost then they will only charge you $99.

ETA:  I will say it was worth it for piece of mind to me, but I knew that the most it would cost me was $99.  I personally would probably see if you can get the test cheaper - No reason to pay $2k when you can pay $99.

Also, for whatever reason....my insurance actually went back and paid the claim after they initially denied it.  Counsyl ended up refunding my $99, so it cost us $0 in the end (this was a few months later though).

[ekaterin]

Aug 15, 2014 8:43:43 GMT -5 Bonita said:

Do you know who the test is through?

We did the Carrier Screen through Counsyl (www.counsyl.com), and if your insurance doesn't cover the cost then they will only charge you $99.

ETA:  I will say it was worth it for piece of mind to me, but I knew that the most it would cost me was $99.  I personally would probably see if you can get the test cheaper - No reason to pay $2k when you can pay $99.

Also, for whatever reason....my insurance actually went back and paid the claim after they initially denied it.  Counsyl ended up refunding my $99, so it cost us $0 in the end (this was a few months later though).

The test at the MFM office is Counsyl.  My OB's office won't offer it (don't know why - they just said no), so I need to be referred out for it. 

Thanks for sharing your perspective!  It helps to hear that others found it worthwhile, as that makes me a feel a bit less crazy for considering asking for a referral to make this happen.

[imimahoney]

I had the Jewish panel done because I am 100% Ashkenazi. It covered CF, Tay Sachs and some other incapable with life disorders. Thankfully I am not a carrier.

Originally my insurance did not cover it but I called and complained saying that my dr required it because of my ethnic background. Pre-insurance coverage it was 800 oop.

Is there a reason your Dr recommends it? Maybe you can get the office to write a letter and appeal their decision.

[ringstrue]

If going to another doc gives you a cheaper option I'd do it, personally. I have a friend from HS whose DD has CF and neither parent (or family?) knew it was in their bloodline at all.

[rbp]

We did the screening. The CF carrier rate is 1/25 in non-Hispanic whites. Of course, we also paid under $100. $2k would give me serious pause. I would get the referral to the MFM.

[nessness]

I got the CF test, but I only had a $25 copay. I am a carrier so they tested DH too, which insurance covered in full (thankfully he is not a carrier).

To me, the peace of mind would be worth $100, but not $2k. If you have the option of saving a ton of money by getting a referral, you absolutely should.

[ekaterin]

I appreciate all the replies! My family has decided I'm completely neurotic to even consider the testing so hearing that it's not a ridiculous plan is very helpful. I called for the referral, so we'll see how this goes.

[mlvmd]

I had the screening. Turns out I'm a carrier for CF. No family history and my mom had been screened with my brother and isn't a carrier.

We had DH screened because of it, particularly because we had just found out his brother is a carrier. We were relieved when DH turned out not to be a carrier.

[Deleted]

They didn't mention cost for mine. I hope it's not crazy expensive.

I'm not a carrier for CF thankfully and not sure if they tested for anything else.

[lo]

I also had the Counsyl test and would recommend it. My DD's newborn screening came back abnormal and further testing revealed she had the most common gene mutation for CF. We had to bring her in for a final and definitive test yesterday, which thankfully came back negative.

But We had to wait 3 weeks for this test and it was good to know that I definitely did NOT have the common gene mutation. That meant there was only a small chance I had some rare gene mutation that didn't show up in testing and got passed down.

When we found out DD had the gene mutation, MH did the counsyl test as well since we got freaked out about any other killer genes lurking in our bodies, lol. Luckily he was clear aside from being a CF carrier.

[anna7602]

Aug 15, 2014 9:04:51 GMT -5 imimahoney said:

I had the Jewish panel done because I am 100% Ashkenazi. It covered CF, Tay Sachs and some other incapable with life disorders. Thankfully I am not a carrier.

Originally my insurance did not cover it but I called and complained saying that my dr required it because of my ethnic background. Pre-insurance coverage it was 800 oop.

Is there a reason your Dr recommends it? Maybe you can get the office to write a letter and appeal their decision.

We did the same thing. Insurance ended up covering it after DH wrote a strongly-worded letter accusing them of discrimination. 

[genet313]

we did a lot of stuff, i forget how extensive, but insurance covered most of it.  i did find out i'm a CF carrier, so that was good to know.  DH is not, so no issue, but if he had been, we'd be looking at a very different pregnancy.  the piece of mind was worth it for me.

[sillygoosegirl]

I had it done. My portion was less than $100, and my insurance covers all lab work at 80%. After learning how common CF is, and hearing about my mom's BFF's daughter who has it, I would have paid a lot more. I didn't actually ask the price and I knew that sometimes it can be very expensive.

That said, my midwife's office seems to have negotiated some super awesome deals on lab work. My Panorama testing was guarenteed to be less than $170 regardless of insurance carrier, for example (I think they bill the insurance much higher rate, but don't bill the patient more than that regardless of what the insurance covers or not). I would definitely shop around for a place that can give you a better price. These things are ridiculously variable.

The only person IRL I told I was getting genetic testing (other than DH, obviously) was my mom. She seemed to think I was nuts for having it, even though I know she had amino done on me when she was pregnant with me. Go figure. Anyway, it's noone's business but your own.

[natsnow]

I had CF carrier screening done at my regular ob, but the medical genetics people ran another huge screen with about a gajillion different carrier screenings when I did my first trimester screen/NT scan. I got a huge bill for it. Honestly, I probably wouldn't have done it if I would have known I was going to get charged so much for it. They didn't really ask me if I wanted it and it's not standard. It might skew my opinion because everything was normal, but it felt excessive to me.

[jorja]

Hmmm. The only thing they recommended I get screened for was Cystic Fibrosis, and my insurance covered it.

I guess it depends on how much the results of these screens would affect your decisions regarding this pregnancy. I'm personally the type that would want to know, although I'm really not sure how much I'd be willing to pay out of pocket.

Sorry, this is a tough decision.

[kate1482]

I just had my NT scan / genetic counseling appointment this morning. I was tested to see if I was a CF carrier before we TTC and ended up doing the test mentioned above since it was offered. No regrets.

[emsumm]

I did it, mine was $99. And actually, I turned out to be a carrier of a rare genetic disorder. My H went in for his blood draw yesterday. Glad we did it, good to know, because if the babe does inherit it she'll need prophylactic treatment starting at birth and throughout her lifetime.

[azurely]

We have a history of m/c so H and I opted to do the Counsyl screen through my RE before getting pregnant. They bill to insurance, but even if insurance doesn't cover, you're only responsible for $99. One of our insurances covered it, the other didn't, so we only paid $99 oop for it. We aren't carriers for anything, but it was well worth the peace of mind.

[nessness]

Tangentially related vent: So after I just said yesterday that my insurance paid for DH's CF screening in full, I just got a statement in the mail that they rejected the claim, and it was for $1600! Just for CF, just for my DH.

We're going to dispute it, but ugh, that is not want I to deal with right now.