Spinal muscular atrophy, distal, X-linked 3 (SMAX3; MIM 300489) is a recessive disorder caused by mutations in the ATP7A gene. SMAX3 is one of several distal hereditary motor neuropathies that comprise a clinically and genetically heterogeneous group affecting peripheral motor neurons. The clinical findings in SMAX3 include distal muscle weakness and atrophy, pes cavus, pes varus, gait instability, hyporeflexia and only mild distal sensory impairment.read more

Tests Available

By gene: ATP7A
Next Generation Sequencing
Test Code: 1307
Deletion / Duplication
Test Code: 1308
NGS/Del Dup Comprehensive
Test Code: 1645

Test Details

Technical Information
Disease Groups: 
Neurological and Muscular Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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