CYP21A2 Gene Testing for Congenital Adrenal Hyperplasia ... · CYP21A2 Gene Testing for Congenital...
Transcript of CYP21A2 Gene Testing for Congenital Adrenal Hyperplasia ... · CYP21A2 Gene Testing for Congenital...
CYP21A2 Gene Testing for Congenital Adrenal Hyperplasia Patient Information Sheet
Instructions: The accurate interpretation and reporting of the genetic results is contingent upon the reason for referral, clinical information, ethnic background, and family history. To help provide the best possible service, supply the information requested below and send paperwork with the specimen.
Reason for Testing
Patient Name (First, Middle, Last) Birth Date (Month DD, YYYY) Age Sex Male Female
Referring Physician Name Phone Fax
Other Contact Phone Fax
Due to the complexity of CYP21A2 testing, known mutation testing is not available. If familial mutations have been previously identified, provide them here:
NOTE: •DuetothecomplexityofCYP21A2genetesting,ourlaboratorydoesnotofferknownmutationtestingforthisgene.However,ifaknown
familialmutationhasbeenpreviouslyidentifiedinthisfamily,pleaseprovidethisinformationintheFamilyHistorysectionbelowandattach any available laboratory test reports from family members.
•Fordiagnostictestingorcarrierscreeningonwholeblood,ordertestcodeCYPPS-CYP21A2FullGeneAnalysis •Forprenatalspecimens,orderCYCMS-CYP21A2FullGeneAnalysis,Prenatal
Diagnosis or Suspected Diagnosis (Indicate relevant information in the Clinical History section below.) Prenatal (Indicate relevant information in the Clinical History section below.) Carrier Screening
Family history of the condition (specify)________________________________________________________________________ Partner has a family history of the condition Partner is a carrier of the condition Partner is affected with the condition
Pertinent Clinical and Laboratory History (Check all that apply) Ambiguous genitalia detected on prenatal ultrasound PositivenewbornscreenforCAH Elevated17-OHP Chromosome analysis performed If yes, indicate patient’s karyotype: 46, XX 46, XY Other____________________ Historyofsalt-wasting Femalewithpre-orpostnatalvirilization Malewithchildhoodvirilization Female with precocious puberty
Other Information (e.g., specific prenatal findings, etc.)
Ethnic Background - Ethnic background may assist with interpretation of test results. European/Caucasian (List countries of origin) ____________________________________________________________________________________________ African American Hispanic Asian Other (specify) _________________________________________________________
Family HistoryAre other relatives known to be affected?
Yes NoIf yes, indicate their relationship to the patient
Are other relatives known to be a carrier? Yes No
If yes, indicate their relationship to the patient
Haveotherrelativeshadmoleculargenetictesting? Yes No
If yes, indicate familial mutations and attach a copy of the family member’s lab report
If the relative was tested at the Mayo Clinic,include the name of the family member:
©2014 Mayo Foundation for Medical Education and Research MML Supply T663 MC1235-164rev0314