Chorea and Huntington-like disorders panel

Chorea and Huntington-like disorders panel

[19 genes]

TOURNAROUND TIME: 6 WEEKS

ATP7B C19orf12 CP DCAF17
FTL HPRT1 NKX2-1 NUP62
PANK2 PDE10A PDE8B PDGFRB
PLA2G6 PRNP RNF216 SLC20A2
VAC14 VPS13A XK
RELATED PHENOTYPES
Benign hereditary chorea NKX2-1
Lesch-Nyhan syndrome HPRT1
Prion diseases PRNP
Striatonigral degeneration NUP62, PDE8B, VAC14
Neuroacanthocytosis and McLeod syndrome VPS13A, XK
Wilson’s disease ATP7B
NBIAs PANK2, PLA2G6, C19orf12 y FTL
Aceruloplasminemia CP
Basal ganglia calcification SLC20A2, PDGFRB

Although Huntington’s disease is the most common form of chorea, it is estimated that 1%-7% of suspected cases have a negative HTT triplet 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, for which this panel has been designed.

REFERENCES
  1. 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

 

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VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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