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Indication(s) for PHOX2B testing: Patient with suspected Congenital Central Hypoventilation Syndrome (CCHS) Patient with suspected autonomic nervous system dysfunction/dysregulation (ANSD) Patients with features suggestive of CCHS but without the full phenotype Relatives of patients with confirmed mutations of PHOX2B PHOX2B Gene Test: Testing is performed by the Molecular Diagnostic Laboratory at Ann & Robert H. Lurie Children's Hospital of Chicago. For the sequencing test, the entire coding region together with the intronic splice sites are sequenced and analyzed. This test will detect polyalanine-repeat mutations as well as known and novel non-polyalanine repeat mutations. Deletions of PHOX2B have recently been associated with Congenital Central Hypoventilation Syndrome (CCHS)-like symptoms although the genotype-phenotype association is not yet clear (Jennings LJ, Yu M, Rand CM, Kravis N, Berry-Kravis EM, Patwari PP, Weese-Mayer DE. Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb;47(2):153-61.) An estimated 2-5% of PHOX2B mutations will be a large deletion of the entire gene or part of the gene that cannot be detected by sequencing. Therefore, we have validated another technique to detect deletions and duplications in PHOX2B called Multiplex Ligation-Dependent Probe Amplification (MLPA). All identified deletion/duplication abnormalities will also be tested by high-density array comparative genomic hybridization to better define the region involved. For further clarification about these tests and their clinical utility or about CCHS, please contact Dr. Weese-Mayer at [email protected] Specimen Requirements: Three ml of blood in an EDTA Vacutainer is required. Call Dr. Min Yu in the laboratory if less than 3ml of blood is available (312.227.6133). Please have the blood sent at room temperature by overnight delivery service (e.g. Federal Express). Because of transportation issues, it is best not to obtain blood on Friday, Saturday or Sunday. If kept overnight before sending, the blood should be refrigerated. DO NOT FREEZE. No refrigeration is needed for same day deliveries. Alternatively, genomic DNA with a concentration of 100 - 2500 ng/µl, a purity of 1.80 - 2.00 at A260/280 and of 1.90 - 2.55 at A260/A230 and a volume sufficient to provide 5 micrograms of DNA will be accepted for testing. DNA extracted using Puregene methodology is preferred. A turnaround time of 1 to 2 weeks is anticipated for the sequencing and MLPA tests. Please include the requesting physician's complete mailing address, e-mail address, and phone and fax numbers. A FULLY COMPLETED REQUISITION MUST ACCOMPANY EACH BLOOD SAMPLE. IF INDICATED, PLEASE INCLUDE A PEDIGREE DIAGRAM. PLEASE SHIP TO THE ADDRESS LISTED ON THE BOTTOM OF PAGE 3 OF THIS REQUISITION. Payment Arrangements: The patient can pre-pay with a cashier's check or credit card or we can bill the referring institution. Prepayment is required for all samples from outside the U.S. Ann & Robert H. Lurie Children's Hospital of Chicago will not bill third party payers (e.g. insurance, Medicare, Medicaid) for this testing. Payment is the responsibility of the submitting entity. For Sequencing, the price is $550 USD and CPT code is provided here as a reference (81404). For Deletion/Duplication MLPA Testing, the price is $400 USD and CPT code is provided here as a reference (81403). For Gene Analysis of Familial Variants, the price is $350 USD and the CPT code as a reference is 81479. Please note: The Molecular Diagnostics Laboratory of Lurie Children's does not hold a New York State Clinical Laboratory Permit. For inquiries on the sequencing test, deletion/duplication test, specimen requirements, or this requisition, please contact Dr. Larry Jennings at [email protected]
Ann & Robert H. Lurie Children's Hospital of Chicago
Center for Autonomic Medicine in Pediatrics & Molecular Diagnostic Laboratory 2515 N. Clark Street, Deming Building, Room 5027, Chicago, IL 60614
Phone: 312-227-6130 & Fax: 312-227-9456 CLIA: 14D0665379
Ann & Robert H. Lurie Children's Hospital of Chicago
Center for Autonomic Medicine in Pediatrics & Molecular Diagnostic Laboratory 2515 N. Clark Street, Deming Building, Room 5027, Chicago, IL 60614
Phone: 312-227-6130 & Fax: 312-227-9456 CLIA: 14D0665379
REQUEST FOR CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (CCHS) PHOX2B SEQUENCING* PLEASE THOROUGHLY COMPLETE THIS FORM TO AVOID DELAYING THE PROCESSING OF THE SAMPLE.
Patient Information: If submitting samples from multiple family members, please attach a pedigree.
First Name:
City:
Date of Blood Draw:
Address:
Date Blood Sent:
State: Zip: Country:
Phone Number: Mobile Number:
Reason for Ordering Test:DIAGNOSES (CHECK ALL THAT APPLY):
Ethnicity: Caucasian African American
Hispanic Asian Pacific Islander
Other Specify:
DOB: Month Day Year Male Female Gender:
CCHS
Hirschsprung disease
Neuroblastoma
Other neural crest tumor
Apparent life threatening events (ALTEs)
Unresolved apnea of prematurity
Unresolved apnea of infancy
Cardiac pacemakerEsotropia Exotropia Fixed and dilated pupils
Age at diagnosis of alveolar hypoventilation:
Other pertinent information:
Last Name:
Contact Person: Relationship to patient:
Asleep ventilator needs Awake ventilator needs
Mechanical ventilation via tracheostomy
BiPAP via mask ventilation
Negative pressure ventilation
Diaphragmatic pacers
Mechanical ventilation via tracheostomy
Diaphragmatic pacers
Tracheostomy
Peak end tidal carbon dioxide:Nadir hemoglobin saturation during spontaneous breathing:
Peak end tidal carbon dioxide:Nadir hemoglobin saturation during spontaneous breathing:
Sequencing Deletion/Duplication Sequencing of Familial Variants
Physician Information: (results will be sent to the physician)
Name: (last)
Address:
City:
E-mail:
Name: (first)
State: Zip:
Phone Number: Fax Number:
Country:
Billing Information: Ann & Robert H. Lurie Children's Hospital of Chicago will not bill third party payors (e.g. Insurance, Medicare, Medicaid) for this testing. Payment is the responsibility of the submitting entity.
Pre-payment by cashier's check or credit card is required for all samples referred from outside of the United States
Institutional Billing: For U.S. Institutions Only
DiscoverMasterCardVisa
Check enclosed(payable to Ann & Robert H. Lurie Children's Hospital of Chicago)
Phone Number:
Credit Card
Account#: Expiration date:
Card Holder's Name:
Card Holder's Signature:
Date:
Contact Person/Title:
Name of Institution:
Section/Laboratory:
Address:
City: State: Zip:
E-mail:Shipping Information: HLA and Molecular Diagnostic Laboratories 2515 N. Clark Street Deming Building, Room 5027 Chicago, IL 60614 Phone: 312-227-6130 Fax: 312-227-9456
*All test results will be reviewed by Drs. Weese-Mayer and Jennings (Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University). Additional information and medical records may be requested.
Phone Number: Fax Number:
Last Revised 07/03/2013
Ann & Robert H. Lurie Children's Hospital of Chicago
Center for Autonomic Medicine in Pediatrics & Molecular Diagnostic Laboratory 2515 N. Clark Street, Deming Building, Room 5027, Chicago, IL 60614
Phone: 312-227-6130 & Fax: 312-227-9456 CLIA: 14D0665379
Physician's Signature (Required):
