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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
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Medical Genetics Test Details

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Neonatal and Infantile Seizures Panel
Test Information: Neonatal seizures are defined as occurring in the first 28 days of life, although they primarily occur in the first week of life. With a prevalence of 1.5% in neonates, they represent an obvious clinical sign of neurologic dysfunction. Clinically, they are primarily found to be subtle epileptic events; however, they can be more obvious and include seizures that are clonic, tonic, myoclonic or infantile spasms. Many etiologies exist, including hypoxic ischemic events, infectious, electrolyte abnormalities, or metabolic disorders. Metabolic conditions are estimated to be found in ~4% of children presenting in status epilepticus and should be considered when an initial evaluation for an infectious process or electrolyte abnormalities are unrevealing. Identifying a metabolic etiology can have significant implications for treatment and also for prognosis.

The Baylor MGL has created a panel of tests to evaluate for an underlying metabolic cause for neonatal seizures. Please see the "Special Notes" section for a list of tests included in this panel.

1. Rahman S, Footitt EJ, Varadkar S, Clayton PT. Inborn errors of metabolism causing epilepsy. Dev Med Child Neurol. 2013 Jan;55(1):23-36.
2. Van Hove JL, Lohr NJ. Metabolic and monogenic causes of seizures in neonates and young infants. Mol Genet Metab. 2011;104(3):214-30.
3. Skjei KL, Dlugos DJ. The evaluation of treatment-resistant epilepsy. Semin Pediatr Neurol. 2011 Sep;18(3):150-70.
4. Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60.
Test Details
Test Code: 4400
Special Notes: Included in this panel are:

Plasma Amino Acid Analysis (#4100)
Plasma Acylcarnitine Profile (#4300)
Plasma Pyridoxine-Dependent Seizures (#4811)
Plasma Creatine and Guanidinoacetate (#4130)
Serum Biotinidase (#4555)
Urine Purine and Pyrimidine (#4220) and (#4215)
Urine Organic Acid Analysis (#4200)
Urine Sulfocysteine Determination (#4225)
CSF Pyridoxine-Dependent Seizures (#4812)
CSF Amino Acid Analysis (#4160)
Technical Information
References Values or Ranges: Ranges, when appropriate, are included in the report.
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Plasma, Urine, Serum and Cerebrospinal Fluid
Requirements: Plasma: Draw blood in a heparin (green-top) tube(s) and separate as soon as possible. Send 2 cc of plasma. Store the specimen frozen at -20C. Specimen may be stored frozen for up to 7 days.

Urine: Send 2-4 cc of of a random urine. Do not add preservatives. Store the specimen frozen at -20C.

Serum: Draw blood in a No Additive (red-top) or Serum Gel (red/gray-top) tube(s) and separate as soon as possible. Send 1-2 cc of serum. Biotinidase is very labile. Freeze the specimen immediately after collection at -20C if possible. Ship to the laboratory as soon as possible.

CSF: Send 1-2 cc of cerebrospinal fluid. Store the specimen frozen at -20C. Specimen may be stored frozen for up to 7 days.

Shipping Conditions: Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82017 x 1, 82139 x 1, 82261 x 1, 82540 x 1, 82570 x 1, 83789 x 15, 83919 x 1

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