Imegen-Friedreich Ataxia Kit
The Imegen Friedreich Ataxia Kit determines the number of GAA trinucleotide repeats in intron 1 of the FXN gene, the expansion that causes Friedreich ataxia. The kit combines conventional PCR with triplet-primed PCR (TP-PCR), so both normal and expanded repeat numbers can be sized. Each analysis requires 50 ng of DNA, and one kit covers 12 reactions. Research use only.
Quote-based, no public pricing. Add to your quote and our specialists put together a proposal with the right documentation, typically within 24 hours.
This kit in detail
- GAA repeat expansion in intron 1 of the FXN gene
- PCR and TP-PCR combined, for normal and expanded repeat numbers
- 50 ng of DNA per analysis
- Manufactured under ISO 9001 and ISO 14001
- 12 reactions per kit
The Imegen Friedreich Ataxia Kit sizes the GAA trinucleotide repeat in intron 1 of the FXN gene.
Clinical background
Friedreich ataxia is a rare hereditary ataxia affecting approximately 1 in 29,000 people, with autosomal recessive inheritance. It causes progressive degeneration of the nervous system, with ataxia, dysarthria, impaired vibration sense, muscle weakness and cardiomyopathy. In 98 per cent of cases it is caused by a homozygous expansion of GAA repeats in intron 1 of the FXN gene on chromosome 9q13.
Repeat numbers
The diagnosis rests on the number of GAA repeats. In patients the expansion ranges from 66 to more than 1,300 repeats, while fewer than 33 repeats is considered normal.
Method
The kit combines conventional PCR with triplet-primed PCR (TP-PCR), which together allow both normal and expanded alleles to be sized. It contains the Friedreich A and B master mixes, a general master mix, Friedreich Taq, a PCR master mix and a TP-PCR master mix. Each analysis requires 50 ng of DNA.
Quality and regulatory status
The kit is manufactured under ISO 9001 and ISO 14001. It is for research use only.
Friedreich A Master Mix, Friedreich B Master Mix, General Master Mix IV (MSDS-G6), Friedreich Taq (MSDS-G1), PCR Master Mix, TP-PCR Master Mix
Datasheets and regulatory documentation
Everything your quality team needs for evaluation and procurement.
Instructions for Use
Imegen-Friedreich Ataxia Kit
Frequently paired with this kit
Other assays and instruments lab teams add alongside the Imegen-Friedreich Ataxia Kit.
Add this kit to your quote
Tell us the platforms and throughput you’re planning for and our specialists will put together a clear proposal with the right documentation, no public pricing, just a considered answer.
