SCIENTIFIC BACKGROUND

ADCY5, ARSA, ATM, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, FRRS1L, FTL, GM2A, GNAO1, KCNA1, NKX2-1, PDE10A, PRNP, RNF216, SETX, TBP, VPS13A, XK

Scientific background

In 90% of patients with a choreatic movement disorder of genetic origin, a pathogenic CAG triplet repeat expansion in the HTT gene can be detected. For the remaining 10% with no evidence of a pathological HTT-CAG triplet repeat expansion, a differential diagnosis of Huntington-like disorders, which are clinically difficult or impossible to differentiate, can be clarified by comprehensive gene panel testing. For some of the listed genes, the presence of a repeat expansion is clarified by PCR and subsequent capillary electrophoresis (fragment length analysis).

 

References

Mencacci et Carecchio 2016, Curr Opin Neurol 29:486 / Hensman Mosset et al. 2014, Neurology 82:292 / Nguyen 2013, MedGen 25:223 / Martino et al. 2013, J Neurol Neurosurg Psychiatry 84:650

GENES

ADCY5, ARSA, ATM, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, FRRS1L, FTL, GM2A, GNAO1, KCNA1, NKX2-1, PDE10A, PRNP, RNF216, SETX, TBP, VPS13A, XK

ASSOCIATED TESTS

How to order

LATEST ARTICLES

Cystic fibrosis (CF) is a life-threatening, progressive, inherited condition that causes severe damage to the body, primarily affecting the organs of...

Read more

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cogni...

Read more

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...

Read more

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...

Read more