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Long QT Syndrome 3 (SCN5A, main mutations)

Cardiology 04.022

Long QT Syndrome 3 (SCN5A, main mutations)

LQT3
Signs/symptoms: Arrhythmia
Complications: Sudden death
Early diagnosis/treatment: Yes
Specific variants associated with LQT1, LQT2, LQT3, LGT5, or LQT6 (sequencing)

Material required:
Blood tubes: EDTA whole blood (do not freeze, do not centrifugate)
Mouth brush: No
Chromosomal localization: 3p21 OMIM number: 600163

Sodium channel, type V, SCN5A LQT (main mutations)

SCN5A

Gene regions tested:
Gene regions:
Amino acid positions: specific variants (only combined with KVLQT1, KCNH2, KCNE1, KCNE2)
Nucleotide positions:
Test methods: Sequencing

Prices:

Switzerland:
8820.00 8811.01 8819.01
  TP REVAL: 270 TP Value: 0.9 CHF 243.00
Other europe: EUR 150.00
Other regions: USD call

References:
Towbin JA, Vatta M. Molecular biology and the prolonged QT syndromes. Am J Med. 2001;110:385-398.

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