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- Dravet Syndrome, FEB3
This test covers all coding nucleotides of gene SCN1A, plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5' and 3' UTR.
Confirms a diagnosis of a SCN1A-related seizure disorder, including but not limited to severe myoclonic epilepsy of infancy (SMEI, also known as Dravet Syndrome), intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC), generalize epilepsy with febrile seizures plus (GEFS+).
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants or variants outside of the regions targeted by this analysis. It may be affected by allele-dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.
Results of this test are for investigational purposes only. The performance characteristics of this assay have been determined by LabCorp. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically established diagnostic product or procedure.
SCN1A-related seizure disorders encompass a spectrum of autosomal dominant disorders that ranges from simple febrile seizures (FS) and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Less commonly observed phenotypes include myoclonic-astatic epilepsy (MAE or Doose syndrome), Lennox-Gastaut syndrome (LGS), infantile spasms, and vaccine-related encephalopathy and seizures. Individuals with seizures on the more severe end of the spectrum often carry a de novo pathogenic variant while individuals on the milder end of the spectrum often have an inherited pathogenic variant. In addition, the clinical presentation of family members carrying the same pathogenic SCN1A variant can vary. Consequently, testing combined with a detailed clinical history is recommended for the parents of any child with a SCN1A pathogenic variant or variant of uncertain significance.
Lavender-top (EDTA) tube or yellow-top (ACD) tube
Maintain at room temperature or refrigerate at 4°C.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|511236||SCN1A DNA Sequencing||41765-9||511237||SCN1A DNA Sequencing||41765-9|