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Condition



Test Name

Chromosomal Microarray - Affymetrix Cytoscan 750K genechip

Inclusive Genes



750000 CNV/200000 genotypable probes. The array contains 550,000 unique non-polymorphic probes and approximately 200,000 genotype-able SNPs Primary indications : 1)Unexplained developmental delay (DD) 2)Intellectual disablility(ID)or mental impairment 3)Autism spectrum disorders (ASD) 4)Multiple congenital anomalies (MCA)

Specimen Type

Peripheral blood/Purified genomic DNA/Chorionic villus sample (CVS)/Amniotic fluid (AF)/Product of Conception (POC)

Container

Transportation Temperature

Peripheral Blood : 20-25⁰C Purified genomic DNA : 2-8⁰C Chorionic villus sample (CVS) : 2-8⁰C Amniotic fluid (AF) : 2-8⁰C Product of Conception (POC) : 2-8⁰C

Volume

Peripheral Blood : Minimum 3ml of peripheral blood Purified genomic DNA : minimum 1 microgram of DNA (concentration of 50-100ng/microliters) Chorionic villus sample (CVS) : 300-500mg of CVS Amniotic fluid (AF): Amniotic fluid of 15-20ml/T25 culture flask with 100% confluency minimum 100mg of POC

Methodology

Microarray

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