NF1 (17q11) / MPO (17q22) probe hybridized to patient material showing a deletion of NF1 gene region at 17q11 (1R2G).

IVD NF1/MPO

ivd-nf1-mpo
NF1, or Von Recklinghausen disease, is one of the most common hereditary neurocutaneous disorders in humans and one of the most common single gene syndromes. Clinically, NF1 is characterized by café-au-lait spots, freckling, skin neurofibroma, plexiform neurofibroma, bone defects, Lisch nodules and tumors of the central nervous system. The responsible gene, NF1 (neurofibromin), was identified on chromosome 17q11. Whole NF1 gene deletions occur in 4%-5% of individuals with NF1 and can be detected by FISH analysis. The NF1 (17q11) region probe is optimized to detect copy numbers of the NF1 gene region at 17q11.2. The MPO region specific FISH probe at 17q22 is included as control probe.

References:
Riva P et al, 2000, Am. J. Hum. Genet., 66; 100-109.
Dorschner et al, 2000, Hum. Mol. Genet., 9; 35-46.

Products

Products

KBI-40114
MD NF1 (17q11) / MPO (17q22)10T
Country availability

Contact Us for a quote.

Constitutional
In Vitro Diagnostic Use
100 µL
Dual Color > Red, Green
Cells
Deletion
Gene Region-Specific
Fluorescent
Ready-to-Use
Manual Reagent
KBI-45114
MD NF1 (17q11) / MPO (17q22) 5T
Country availability

Contact Us for a quote.

Constitutional
In Vitro Diagnostic Use
50 µL
Dual Color > Red, Green
Cells
Deletion
Gene Region-Specific
Fluorescent
Ready-to-Use
Manual Reagent

Downloads

Recently Viewed