Chromosome Analysis, Mosaicism

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.

Yes, there are other studies that may be appropriate. There are many causes for development disorders, some of which are genetic. In the absence of clinical suspicion for a specific genetic disorder, a microarray analysis may be performed to detect subtle deletions and duplications. If clinical suspicion exists for a specific disorder, there may be other genetic testing available. Please call Quest Genomics Client Services at 866-GENE-INFO to discuss the case with a genetic counselor and for information on adding additional testing.

The Chromosome Analysis, Mosaicism test rules out the following:

• Trisomies such as trisomy 21 (Down syndrome), trisomy 18, trisomy 13
• Sex chromosome abnormalities such as Turner syndrome (45,X) and Klinefelter syndrome (47,XXY)
• Most rearrangements, including Robertsonian translocations, reciprocal translocations, and inversions
• Most marker chromosomes
• Mosaicism above 6% (at a 95% confidence level)

The Chromosome Analysis, Mosaicism test cannot detect the following:

• Most microdeletion syndromes, including DiGeorge, Prader-Willi, Angelman, Williams, and Smith-Magenis syndromes
• Mosaicism below 6% (at a 95% confidence level)
• Fragile X syndrome
• Single gene disorders such as cystic fibrosis, Marfan syndrome, neurofibromatosis, etc.
• Very small or subtle chromosomal gains, losses, or rearrangements

Chromosome studies on additional sample types (such as skin fibroblasts) may be considered. Please call Quest Genomics Client Services at 866-GENE-INFO.