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Test Code SCN1A DNA SCN1A DNA Sequencing Test

Clinical System Name

SCN1A DNA Sequencing Test

Synonyms

Generalized Epilepsy with Febrile Seizures (GEFS+)
Severe Myoclonic Epilepsy of Infancy (SMEI)
 

Description

SCN1A-related seizure disorders encompass a spectrum 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. Phenotypes with intractable seizures including Dravet syndrome (also known as severe myoclonic epilepsy in infancy [SMEI] or polymorphic myoclonic epilepsy in infancy [PMEI]) are usually associated with progressive dementia. Less commonly observed phenotypes include myoclonic-astatic epilepsy (MAE or Doose syndrome), Lennox-Gastaut syndrome (LGS), infantile spasms, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A-related seizure disorders can vary even within the same family.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 4 mL

Minimum Vol: 2 mL

 

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 800 nanograms

Minimum Vol: 600 nanograms

 

Notes:

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Affix large Cerner labels to tubes and place in refrigerator send-outs rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 5 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 21-28 d

 

Performing Laboratory

Medical Neurogenetics

Department

Department:  Medical Neurogenetics, 5424 Glenridge Dr, Atlanta, GA 30342

Phone Number: (678) 225-0222 ext 201

 

Reference Range

Interpretive report is provided.

Methodology

Method: Sequence analysis

Analytical Volume:

Limitations:

CPT Codes

81407 x1

Special Instructions

Links to:

 

Medical Neurogenetics

 

Send Out Instructions

Reference Test Name: SCN1A DNA Sequencing Test
Reference Test Number: MOL230
Instructions: Ship overnight via FedEx.