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FISH, Angelman

Test code(s) 14608X

Question 1. My patient has a family history of Angelman syndrome and a normal FISH test result. Do these results guarantee that my patient does not have Angelman syndrome?

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.

Question 2. My patient’s FISH test revealed a deletion in the Prader-Willi/Angelman region. How do I determine whether my patient has Prader-Willi syndrome or Angelman syndrome?

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.

Question 3. Clinically, my patient appears to have Angelman syndrome. However, Angelman FISH studies were normal. Do these studies rule out Angelman syndrome in my patient?

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 physician’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