Test Code 15283
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene
PEX3
N/A
Who is this test for? | Individuals with clinical symptoms and biochemical findings consistent with PBD-ZSS. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PEX3. |
Method | Sequencing with CNV PG-Select |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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