CytoCell Del(7q) Deletion FISH Probe

Probe specification

• 7q22, Red
• 7q31.2, Green

The 7q22 probe, labelled in red, covers a 396kb region including the telomeric end of the RELN gene and extending beyond the marker D7S658. The 7q31.2 probe, labelled in green, covers a 203kb region including the TES gene.

Probe information

Monosomy of chromosome 7 and deletions of the long arm of chromosome 7 are recognised recurrent chromosomal aberrations frequently seen in myeloid disorders, including myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML)¹. Furthermore, these abnormalities occur in MDS and AML that develop in patients with constitutional disorders (e.g., Fanconi anaemia, Kostmann syndrome, neurofibromatosis type 1, and familial monosomy 7)². The presence of monosomy 7 or del(7q) as karyotypic changes are associated with a poorer outcome in myeloid malignancies^1,3. Deletions of chromosome 7 are typically large with heterogeneity in the breakpoints in myeloid diseases, making it difficult to map the common deleted regions (CDRs).

Intended purpose

The CytoCell^® Del(7q) Deletion Probe is a qualitative, non-automated, fluorescence in situ hybridisation (FISH) test used to detect chromosomal deletions in the 7q22 and 7q31.2 regions on chromosome 7 in Carnoy’s solution (3:1 methanol/acetic acid) fixed haematologically-derived cell suspensions from patients with confirmed or suspected acute myeloid leukaemia (AML) or myelodysplastic syndrome (MDS).

Indications for use

This device is designed as an adjunct to other clinical and histopathological tests in recognised diagnostic and clinical care pathways, where knowledge of 7q22 or 7q31.2 deletion status would be important for clinical management.

Limitations

This device is designed to detect genomic losses larger than the regions covered by the red and green clones in this probe set, which includes the 7q22 and 7q31.2 regions. Genomic losses outside this region or partial losses of this region may not be detected with this device.

This device is not intended for: use as a stand-alone diagnostic, use as a companion diagnostic, prenatal testing, population-based screening, near-patient testing, or self-testing.

This device has not been validated for sample types, disease types, or purposes outside of those stated in the intended purpose.

It is intended as an adjunct to other diagnostic laboratory tests and therapeutic action should not be initiated on the basis of the FISH result alone.

Reporting and interpretation of FISH results should be performed by suitably qualified staff, consistent with professional standards of practice, and should take into consideration other relevant test results, clinical and diagnostic information.

This device is intended for laboratory professional use only.

Failure to adhere to the protocol may affect the performance and lead to false positive/negative results.