SPG21 Gene, Old Order Amish Specific Mutation Analysis - SPG21 Gene Mutation Analysis

Mast syndrome is an autosomal recessive, complicated form of hereditary spastic paraplegias associated with dementia that has been found in the Old Order Amish population. The disease is slowly progressive with development, speech and gait disturbances noted in childhood and cerebellar and extrapyramidal abnormalities in advanced disease. The c.601dupA mutation is associated with these cases of Mast syndrome amongst the Amish. This test specifically analyzes the c.601dupA mutation in the SPG21 gene.

Test Indications

  • Confirmation of a clinical diagnosis
  • Carrier testing for a family member of an affected individual

Sample Requirements

  • Infants: 2-3 mL whole blood in purple top EDTA tube
  • Children (>2 years) and Adults: 5-7 mL whole blood in purple top EDTA tube

Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].

Shipping Address:
   Center for Human Genetics Laboratory
   10524 Euclid Ave, 6th Floor
   Cleveland, OH 44106

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.

Cost/CPT code:

$134.00 / 81403

Turn Around Time: 2 weeks

Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens requisition (PDF) for each sample.

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