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FISH, Prader-Willi

Test code(s) 14605X

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 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 uniparental disomy (UPD) or an imprinting defect in the Prader-Willi critical region cannot be detected using FISH. Prader-Willi/Angelman Syndrome, DNA Methylation Analysis test (test code 11369 [14470 for NY]) will rule out 99% of cases of Prader-Willi syndrome, including those caused by deletions, UPD, or an imprinting defect. 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.58 Version: 2
Version 2 effective 04/22/2016 to present
Version 1 effective 03/24/2014 to 04/21/2016
Version 0 effective 05/30/2012 to 03/23/2014
 

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