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Condition



Test Name

Charcot-Marie-Tooth type 4 (EGR2, GDAP1, NEFL, PRX) deletion/duplication analysis

Inclusive Genes



EGR2, GDAP1, NEFL, PRX

Specimen Type

Peripheral blood/purified genomic DNA/chorionic villus sample (CVS)/amniotic fluid

Container

Transportation Temperature

20-25⁰C CVS at 2-8⁰C

Volume

Minimum 3ml of peripheral blood; minimum 1 microgram of DNA (concentration of 50-100ng/microliters); 300-500mg of CVS; Amniotic fluid of 15-20ml/T25 culture flask with 100% confluency

Methodology

MLPA

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