[CIS PIDD] [cis-pidd] SCID genetic testing?

[Dylan Mordaunt]

Dear Megan,

It's surprising that they are unwilling to pay for the genetic testing in
this context, given that testing will influence the treatment that they
will presumably (hopefully) pay for. Many of the molecular genetic labs
have "letters of medical necessity" pre-written for this purpose or will
write them (e.g. http://www.aruplab.com/genetics/resources/medical-necessity
).

Duke offer testing for ADA-SCID on a research basis-
http://www.ncbi.nlm.nih.gov/gtr/tests/319284/laboratory/. Urine purine and
pyrimidine analysis should ADA and PNPD also, and is available in many
metabolic labs relatively inexpensively.

The NIH looks to be recruiting patients for a SCID natural history study,
which appears to include genetic testing (
https://www.rarediseasesnetwork.org/PIDTC/studies/6901-SCID.htm). There
appears to be a study contact for your centre on the linked page.

Otherwise, the Centre for Mendelian Genetics (http://www.mendelian.org/)
collaboration were looking for SCID patients (
http://www.mendelian.org/investigated-disorders-0/). It might be worth
contacting the investigators (David Valle and James Lupski) to see whether
they would be willing to take your patient on.

Despite normal examination, skeletal survey can also be useful to narrow
your candidates down.

Kind regards,

Dylan
Clinical and Metabolic Genetics Fellow
South Australian Clinical Genetics Unit

Dylan Mordaunt
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com

On 1 October 2014 10:22, Cooper, Megan <Cooper_M at kids.wustl.edu> wrote:

>   Hi Everyone,
>
>
>
> I am seeing an infant referred for a positive NBS for SCID.  I have run
> into a situation where her insurance is completely unwilling to pay for any
> genetic testing.  I'm wondering if anyone is doing research-based testing
> or has other ideas about how to obtain further testing.  I'm guessing this
> has been a problem in other states with NBS. Luckily - she is doing
> relatively well, proliferation is normal, but she is only 2 months old and
> her T cells are dropping.  I think further testing (?hypomorphic mutation)
> would allow for better prediction of her prognosis/need for treatment.
>
>
>
> Briefly her clinical picture:
>
> -Near-term, no major complications, eating/growing, normal exam, now
> almost 2 months old
>
> -low T cells (below) with other normal counts  - although B and NK #s are
> going down as well
>
> -completely normal proliferation to mitogens
>
> -CD4RTE test at mayo showed elevated CD45RO% (~30%), but normal percentage
> of CD31+ cells within the CD45RA compartment (84% of CD45RA+ were CD31+)
>
> -Chr 22 and 10 FISH negative, no known midline/cardiac defects.
>
> -HIV PCR negative & maternal HIV negative, Chr 22 and 10 FISH negative.
>
>
>
>
>
> Counts:
>
>
>
> *8/26/14:*
>
> CD4 - 838
>
> CD8 - 510
>
> CD19 - 1239
>
> CD56/16 - 875
>
>
>
> *9/29/14*
>
> CD4 - 656
>
> CD8 - 316
>
> CD19 - 729
>
> CD56/16 - 632
>
>
>
> Normal class I/II expression, nl CD40, T cells largely negative DR
>
>
>
> Thanks,
>
>
>
> Megan
>
>
>
>
>
>
>
> Megan A. Cooper, MD, PhD
>
> Assistant Professor, Department of Pediatrics
>
> Division of Rheumatology
>
> Washington University School of Medicine
>
> Cooper_m at kids.wustl.edu
>
> Lab website:
> http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
>
> (lab office) 314-286-0262
>
> (lab fax) 314-286-2895
>
>
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