Cytogenetic Testing: 2.7 M SNPs Chromosomal Microarray on Blood
Also known as: chromosomal microarray, congenital blood test, cytogenetic testing.
What is cytogenetic testing: 2.7 M SNPS chromosomal microarray on blood?
SNP’s or single nucleotide polymorphisms are single abnormalities in genes on your child’s chromosomes (the material that’s passed from parent to child). Following a chromosomal analysis, microarray technology allows for millions of sites on the chromosome, plus other genetic information to be tested for abnormalities. Approximately 10% of children with unexplained mental problems/developmental abnormalities or abnormal facial features as well as some children with congenital malformations may have gene abnormalities which can detected by microarray technology.
What happens during the procedure?
Blood is withdrawn from a vein in the usual way and then sent to a Genetics laboratory for testing.
Is any special preparation needed?
No special preparation is needed for this test.
What are the risk factors?
There are minimal risks for infection, bleeding, bruising, swelling or damage to nearby structures when the blood is drawn.
Reviewed by: Jack Wolfsdorf MD.
This page was last updated on: 10/29/2018 2:21:43 PM
From the Newsdesk
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
August 15, 2017 was the day my son Lucas was admitted to Nicklaus Children’s Hospital for purposes of treating uncontrollable seizures. After being admitted at a previous children’s hospital on three consecutive occasions and many EEGs later, we were referred to Nicklaus Children’s by a neurologist.