| Congenital Central Hypoventilation Syndrome |
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The Molecular Diagnostic Laboratory at Rush University Medical Center (RUMC) is pleased to offer a clinical DNA test for Congenital Central Hypoventilation Syndrome (CCHS) to physicians and medical institutions. The test is a PCR assay which directly amplifies and sizes the second polyalanine-coding triplet repeat sequence in exon 3 of the PHOX2B gene. This triplet repeat is expanded in the majority of individuals with CCHS. The test is highly sensitive and specific. Carrier testing in families is available to distinguish CCHS-associated polyalanine repeat expansion mutation and the normal gene. Three to 9 cc of blood in an EDTA vacutainer is required. Call the (312-942-6298), FAX (312-942-2857) or email Nancy Becker or Dr. Paul Wong if less than 3cc of blood is available. Send the blood at room temperature by overnight delivery service like Federal Express. Because of transportation issues, it is best not to obtain blood on Friday, Saturday or Sunday. If kept overnight, the blood should be refrigerated. DO NOT FREEZE. No refrigeration is needed for same day deliveries. A turn around time of 1 to 2 weeks is anticipated. Please include the requesting physician’s complete address, e-mail address and phone and fax numbers. |
The shipping address is: Diagnosis, clinical information and billing information must accompany the blood sample. The patient can prepay with a cashier’s check or credit card or we can bill the referring institution. Pre-payment is required for all samples from outside the U.S. Rush University Medical Center will not bill third party payors (e.g. insurance, Medicare, Medicaid) for this testing. Payment is the responsibility of the submitting entity. The cost of the test is USD $670.00; CPT codes are 83891, 83894, 83898, 83912. This pricing is effective as of July 1, 2007 and is subject to change without notice. All test results will be reviewed by Dr. Weese-Mayer (Children’s Memorial Hospital, Northwestern University) and Dr. Berry-Kravis (RUMC). Additional information and medical records may be requested. |