Skip to main content

Holiday schedule

Our Patient Service Centers will be closed on Wednesday, December 25, 2024 in observance of Christmas and Wednesday, January 1, 2025 in observance of New Year's Day. Have a healthy, happy holiday.

Hide
Quest Diagnostics

FISH, Angelman

Test code(s) 14608X

No. Please call Quest Genomics Client Services at 866-GENE-INFO to discuss this case with a genetic counselor. Documentation of the specific genetic abnormality in the family will be necessary to determine the accuracy of the testing that was performed on your patient.

Prader-Willi/Angelman Syndrome, DNA Methylation Analysis (test code 11369 [14470 for NY]) can help determine which disorder is more likely. A new sample will be necessary to perform this testing. Please call Quest Genomics Client Services at 866-GENE-INFO to discuss this case with a genetic counselor.

No. While FISH can detect deletions, other causative abnormalities such as mutations in the UBE3A gene, uniparental disomy (UPD), or a defect in the Angelman syndrome imprinting center cannot be detected using FISH. Prader-Willi/Angelman Syndrome, DNA Methylation Analysis test (test code 11369 [14470 for NY]) will detect about 80% of cases of Angelman syndrome, including those caused by deletions, UPD, or an imprinting defect. Point mutations in the UBE3A gene will not be detected by either FISH or methylation studies. Please call Quest Genomics Client Services at 866-GENE-INFO to discuss this case with a genetic counselor.

This FAQ is provided for informational purposes only and is not intended as medical advice. A clinician’s test selection and interpretation, diagnosis, and patient management decisions should be based on his/her education, clinical expertise, and assessment of the patient.

Document FAQS.52 Version: 2
Version 2 effective 04/19/2016 to present
Version 1 effective 10/27/2012 to 04/18/2016
Version 0 effective 04/10/2012 to 10/26/2012
 

Our company

Quest® is the brand name used for services offered by Quest Diagnostics Incorporated and its affiliated companies. Quest Diagnostics Incorporated and certain affiliates are CLIA-certified laboratories that provide HIPAA-covered services.  Other affiliates operated under the Quest® brand, such as Quest Consumer Inc., do not provide HIPAA-covered services. 

 

Quest®, Quest Diagnostics®, any associated logos, and all associated Quest Diagnostics registered or unregistered trademarks are the property of Quest Diagnostics. All third-party marks—® and ™—are the property of their respective owners. © 2024 Quest Diagnostics Incorporated. All rights reserved. Image content features models and is intended for illustrative purposes only.