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Condition
Test Name
Niemann Pick disease (NPC1, NPC2, SMPD1) deletion/duplication analysis
Inclusive Genes
NPC1, NPC2, SMPD1
Specimen Type
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid
NPC1, NPC2, SMPD1
Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid