[CIS PIDD] [cis-pidd] single gene mutation confirmation

[CIS-PIDD]

GeneDx is usually around ~$200-300 for this, they tend to be very helpful if you talk to them on the phone in my experience.

Megan


Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Director, Clinical Immunology
Washington University School of Medicine
Cooper_m at wustl.edu<mailto:Cooper_m at 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



From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Tuesday, June 27, 2017 9:04 AM
To: CIS-PIDD
Subject: [cis-pidd] single gene mutation confirmation

Colleagues,
The mother of a patient with CD40L deficiency due to a single nucleotide mutation resulting in a stop codon in exon 2 is delivering another boy in several weeks. Can anyone suggest a reliable, relatively low cost vendor who will just look for this known mutation? I am getting charges of $1500 as I look around.
Thanks,
Richard Wasserman

--
Richard L. Wasserman, MD, PhD
Allergy Partners of North Texas
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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