Molecular Test Listing

Molecular Requisition

Mitochondrial Panel:

In order to expedite diagnosis, reduce the total cost of testing, and improve the ease of ordering, the tests for MELAS, MERRF, NARP and Leigh syndrome, have been combined into a single panel. Due to heteroplasmy (varying mixture of mutant and normal mitochondrial DNA), these conditions can appear in families with no apparent prior history. Furthermore, the clinical effects can vary greatly within a family. The mutation can be inherited or arise spontaneously. For details of each condition, please refer to the individual tests.

 

REASONS FOR REFERRAL:
  • Individuals with unexplained epileptic episodes or ataxia.
  • Individuals with unexplained weakness, seizures, dementia.
  • To disriminate between MELAS, MERRF, NARP, and other mitochondrial diseases in an affected individual.
  • To accurately predict the risk of having a child with the condition.

 

TESTING METHODOLOGY:

  • PCR amplification, followed by mutation specific restriction enzyme digestion.

SPECIMEN REQUIREMENTS:
  • Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

  • Prenatal testing: Please contact the laboratory for instructions.

  • A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.

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    TURNAROUND TIME:     8 working days

    CPT CODES: