Chromosome Analysis, Blood

No. Please call Quest Genomics Client Services at 866-GENE-INFO (866-436-3463) to discuss this situation with a genomic science specialist. Documentation of the specific genetic abnormality in the family will be necessary to determine the accuracy of the testing that was performed on the patient.

Yes, other studies may be appropriate. There are many causes for developmental 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 (Chromosomal Microarray, Postnatal, ClariSure^® Oligo-SNP, test code 16478). If clinical suspicion exists for a specific disorder, other genetic testing may be available.

Please contact Quest Genomics Client Services at 866-GENE-INFO (866-436-3463) to discuss the situation with a genomic science specialist and for information on additional testing. 

This assay can detect the following:

• Trisomies, such as trisomy 21 (Down syndrome), trisomy 18, trisomy 13
• Sex chromosome abnormalities, such as Turner (45,X) and Klinefelter (XXY) syndromes
• Most rearrangements, such as Robertsonian translocations, reciprocal translocations, and inversions
• Marker chromosomes
• Mosaicism at or above 14% (at a 95% confidence level)
• Most microscopically visible structural abnormalities

This assay cannot detect the following:

• Most microdeletion syndromes, such as DiGeorge, Prader-Willi, Angelman, Williams, and Smith-Magenis syndromes
• Mosaicism below 14% (at a 95% confidence level)
• Single-gene disorders, such as fragile X syndrome, cystic fibrosis, Marfan syndrome, and neurofibromatosis