Microdeletion Probes

Description: KAL may be used to identify deletions of the KAL gene. This mixture contains the SpectrumOrange LSI ...

Description: Kallmann syndrome (KS)is a developmental disorder characterised by olfactory deficiency and ...

Description: Langer-Giedion syndrome (LGS; tricho-rhino-phalangeal syndrome type II) is a contiguous gene ...

Description: MAPT is a 329 kb Green probe that can be used for assessment of the presence or absence of the MAPT ...

Description: The probe is optimized to detect copy numbers of the PAFAH1B1 gene region at 17p13. The RAI1 region ...

Description: The FISH probe is approximately 110 kb in size and homologous to the LIS1 gene located at 17p13.3. ...

Description: Monosomy 1p36 is the most common terminal deletion syndrome, involving 1 in 10,000 births and is ...

Description: The D22S75 (N25 region) SpectrumOrange FISH probe covers a region including and flanking N25. The ...

Description: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterised by ...

Description: The Poseidon NF1 (17q11) region probe is optimized to detect copy numbers of the NF1 gene region at ...

Description: Terminal deletions involving the 1p subtelomere region and interstitial deletions of 1p36, as well ...

Description: The SNRPN region probe is optimized to detect copy numbers of the SNRPN gene region at 15q11.

Description: Four products are offered for the detection or characterization of abnormalities involving ...

Description: Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS) are distinct neurogenetic disorders caused ...

Description: Rubinstein-Taybi is a well-defined condition characterised by short stature, mental retardation, ...

Description: Saethre-Chotzen is one of the most frequent syndromes in congenital malformation. It is ...

Description: The SHOX (Short stature Homeobox-containing gene) is located at Xp22 and Yp11.3 in the ...