Huntington disease (HD) is a progressive neurodegenerative disorder that presents with motor symptoms, cognitive impairment, and psychiatric disturbances. Laboratory diagnosis of HD involves estimation of the number of CAG repeats. The first symptoms usually manifest between 35 and 50 years of age, and the duration of the disease is between 15 and 20 years. A small number of cases present before the age of 20 (juvenile onset), and about 25% of cases present after 50 years of age.

Genetek has developed the GT HTT Detector kit to accurately determine the number of CAG repeat in normal and affected DNA samples. The kit enables the user to determine the number of repeats for carrier screening and confirming affected cases. Special gradient colored panel will help the user to visualize the result even before allele numbering.

Premium Features

• For rapid and accurate detection of CAG repeat numbers in Huntington Disease
• Easy to interpret results by having special panel showing repeat range
• Applicable to a variety of DNA sources including our DNA extraction free materials like blood on filter paper like GT DBC, Blood Lysis buffer, etc.; Can be used by any of Genetek Direct PCR products like GT DBC, GT DBC Blue, and GT BLB
• Easy to use mix and rapid PCR to result

For research use only. Not for use in diagnostic procedures.

Markers

The panel below shows repeat sizes and severity of the disease. Colors indicate normal (green) to severe disease (dark red). Fragment size minus 187 divided by 3 give the repeat numbers. In the sample picture below, the mutated allele is 298 bp or  37 Repeats (298-187=111/3=37).

Repeat Number Interpretation

Table for interpreting GT HTT Detector results. Size range, repeat numbers, health condition are given.

Sample Profile

Compatibility

This kit is compatible with 5 dyes capillary electrophoresis system such as with ABI 3130/xl, 3500/xL , and SeqStudio Genetic Analyzers with either 30, 50, or 80 capillaries.

This kit can be used on various sources of DNA including DNA extracted from various sources or DNA obtained using any of extraction free (direct) materials from Genetek such as GT AFLB (Amniotic Fluid Lysis Buffer), GT CVLB (Chorionic Villus Lysis Buffer, GT BLB (Blood Lysis Buffer), and filter papers (GT DBC or GT DBC Blue).

Kit Content

The kit contains all the necessary reagents and buffers for multiplex PCR (Multiplex Primer mix, PCR buffer, GT HSTaq DNA Pol in Box A). Also, the kit comes with GT500 size standard as well as GTM5 Matrix Standard for calibrating the Genetic Analyzer (Box B).