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NIPA1 (SPG6) DNA Sequencing Test	#532

Test Details

Type of Disorder:	Motor Neuron Disease

Typical Presentation:	Slowly progressive lower extremity weakness and spasticity

Disease(s) tested for:	Autosomal Dominant Hereditary Spastic Paraplegia


Test Code:	532

Profiles that contain this test:	Complete Hereditary Spastic Paraplegia Evaluation

Informed Consent Required:	Yes

Medicare ABN Required:	Yes

Special Notes:	N/A

Technical Information

Utility:	Detects mutations in the NIPA1 gene

Methodology:	Polymerase Chain Reaction (PCR) and DNA Sequencing

Reference Value:	No mutation detected

CPT Code(s):	83891(1), 83898(6), 83904(6), 83909(1), 83912(1)

Patents:	N/A

Shipping Considerations

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

Alternate Specimen Requirements
Type:	Whole blood
Minimum Volume:	10ml
Collection Tube:	yellow top, ACD-A

Storage Conditions:	Refrigerate

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

Test Turnaround:	4-6 weeks

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