Huntington’s disease. CAG expansions in the HTT gene

Although Huntington’s disease is the most common form of chorea, it is estimated that 1% to 7% of suspected cases have a negative HTT triplet repeat expansion study (Martino et al., 2012), and other differential diagnoses must be considered. In addition to other non-genetic conditions (infectious, immune, toxic, or vascular), there are several phenocopies of Huntington’s chorea that must be taken into account.

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5. Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Huntington's disease. CAG expansions in the HTT gene

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: NGS capture panel

Turnaround time (TAT): 20 days

Ref. S-202008726

References

  • Martino D, Stamelou M, Bhatia KP. The differential diagnosis of Huntington’s disease-like syndromes: ‘red flags’ for the clinician. J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):650-6.