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Chromosome Analysis, High Resolution with Reflex to Postnatal, ClariSure® Oligo-SNP Array

Test code(s) 18983

Question 1. My patient has a family history of a chromosome abnormality. My patient's chromosomes were reported as normal. Do these results guarantee that my patient does not have the familial chromosome abnormality?

No. Please call 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 has a family history of a genomic alteration detected by microarray. My patient's Oligo-SNP microarray was reported as normal. Do these results guarantee that my patient does not have the familial genomic alteration?

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

Question 3. Oligo-SNP microarray was not performed on my patient, because the chromosome analysis was abnormal. However, I want the microarray to be performed. Can this be done?

Yes. Within a certain time period, microarray can be performed on the same sample. Please contact 866-GENE-INFO to speak to a genetic counselor about performing the microarray on this specimen.

Question 4. What genetic disorders (abnormalities) does this assay detect?

High resolution chromosome analysis can rule out:

  • Trisomies such as Down syndrome (trisomy 21), trisomy 18, trisomy 13
  • Sex chromosome abnormalities such as Turner and Klinefelter syndromes
  • Most rearrangements, including Robertsonian translocations, reciprocal translocations and inversions
  • Most marker chromosomes
  • Mosaicism above 14% (95% confidence interval)

Oligo-SNP microarray can detect:

  • Small deletions/duplications throughout the genome that are within the resolution of the assay. For more information, please call 866-GENE-INFO to speak with a genetic counselor.
  • Segments of homozygosity that may be representative of a risk for a recessive Mendelian disorder

Question 5. What genetic disorders (abnormalities) cannot be detected by this assay?

This test cannot detect:

  • Mosaicism below 14% (95% confidence interval)
  • Fragile X syndrome
  • Single gene disorders such as cystic fibrosis, Marfan syndrome, neurofibromatosis, etc.
  • Small deletions/duplications smaller than the resolution of this assay. For more information, please call 866-GENE-INFO to speak with a genetic counselor.
  • Small segments of homozygosity that are smaller than the threshold set by the lab (approximately 10 Mb)

Question 6. How are high resolution chromosomes different from routine chromosomes?

High resolution studies allow for more detailed analysis of chromosome structure, which may detect more subtle chromosome abnormalities not detectable in routine studies. High resolution should be considered for patients in whom a particular abnormality is suspected due to family history or very specific clinical features.

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.
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