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If routine chromosome analysis has been previously performed at another reference laboratory, a copy of the karyotype(s) and the final report must accompany the specimen.SUBMIT ONLY 1 OF THE FOLLOWING SPECIMENS: Amniotic Fluid (AF) - Collection Information Chorionic Villus Sample (CVS) - Collection Information Peripheral Blood (PB) - Collection Information Bone Marrow (BM) - Collection Information Stored Pellets - Samples on previously studied samples for cytogenetic analysis are kept for 6 months. After that time, an additional sample from the patient will be required.The Molecular Cytogenetic Laboratory has been involved in FDA clinical validation studies using various diagnostic FISH-DNA probes.

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Reflex Testing: Routine cytogenetic analysis if requested Probes: Turn Around Time: 2-4 days CPT Code Information:88271x2 DNA probe, each88273 Chromosomal in situ chromosomal hybridization analyze 10-30 cells[Lab Referral Form] [Printable PDF File] [Back to Top]Purpose of Test: To identify chromosome abnormalities not otherwise identifiable with routine cytogenetics or single FISH probes.

Note: Routine chromosome analysis must be performed prior to M-FISH testing.

Probes: Turn Around Time: 4-7 days CPT Code Information:88271x15 DNA probe, each 88275x15 Interphase in situ hybridization, analyze 100-300 cells[Lab Referral Form] [Printable PDF File] [Back to Top]Purpose of Test: To rapidly detect the presence of a sex chromosome (X/Y) mosaicism in a tissue other than peripheral blood.

Sex chromosome mosaicism is common among recognized syndromes.

In most cases, the FISH probes used for clinical testing are FDA approved.

Those not approved go through rigorous testing by both the manufacturer and this laboratory prior their use.For example, individuals with Turner syndrome will have a single X chromosome in 55% of cases and the remaining 45% are either variants or mosaics.FISH using X and Y chromosome specific DNA probes allows for the rapid analysis of a large number of cells thus detecting sex chromosome aneuploidy as well as mosaicism.The Molecular Cytogenetic Laboratory of the Wake Forest University Health Sciences was established in 1991 through a North Carolina Baptist Hospital Technology grant and Brenner Children's Hospital.This facility offers state-of-the-art technology for both clinical and research activities.Note: Routine cytogenetic testing is strongly recommended to identify the possibility of other clinically associated chromosome abnormalities.

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