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MIRAS-Specific POLG1 DNA Test	#383

Test Details

Type of Disorder:	Movement Disorders

Typical Presentation:	Patients with a recessive ataxia syndrome. Age of onset ranges from 5 - 41 years, the most common initial symptom is gait disturbance. May also help patients previously tested and found to be negative for all other ataxia genes.

Indications for Testing:	Patients previously tested and found to be negative for all other ataxia genes.

Disease(s) tested for:	Mitochondrial recessive ataxia syndrome (MIRAS)


Test Code:	383

Profiles that contain this test:	Complete Ataxia Evaluation

Informed Consent Required:	Yes

Medicare ABN Required:	No

Special Notes:	Only select exons are tested in POLG1 to minimize the cost of testing.

Technical Information

Utility:	Detects sequence variations in three exons in the POLG1 gene known to cause the MIRAS syndrome

Methodology:	PCR and DNA Sequencing

Reference Value:	No sequence variations detected

CPT Code(s):	83891(1), 83898(3), 83904(3), 83912(1)

Shipping Considerations

Preferred Specimen Requirements
Type:	Whole blood
Minimum Volume:	10ml
Collection Tube:	Lavender top (EDTA)

Storage Conditions:	Refrigerate; avoid freezing

Shipping Conditions:	Room temperature. Ship within 24 hours, Monday-Thursday only.

Test Turnaround:	3-4 weeks

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