Description
GGA Postnatal SNP (single nucleotide polymorphism) microarray is a genetic testing for newborn or child. It is a type of DNA array which is designed with high density (copy number variation) CNV+SNP probes to detect small variations across the whole chromosome set. The detection rate is higher than karyotyping (G-banding) and traditional oligo-microarray.
Overview
The World Health Organization (WHO) estimates that 6-8% of children suffer from developmental delay globally. Approximately 60-80% of children with intellectual disability do not have significantly abnormal features and are therefore difficult to diagnose.
The FIRST-TIER clinical diagnostic test for Individuals with Developmental Disabilities or Congenital Anomalies
The American College of Medical Genetics (ACMG), the American Academy of Pediatrics (AAP), the American Academy of Neurology (AAN) and the International Standards for Cytogenomic Arrays Consortium (ISCA) recommend the chromosomal microarray as the FIRST-TIER diagnostic test for individuals with unknown pediatric developmental delay, congenital abnormality, intellectual disorder or autistic spectrum disorder.
SNP microarray is more EFFICIENTLY
Microduplication or microdeletion of chromosome (<5 Mb) can lead to excess or shortage of the genes within that region, resulting in a person with intellectual disability, developmental delay, and/or congenital anomalies.
Currently, the commonly used genetic testing methods, such as karyotyping (G-banding) or array-based comparative genomic hybridization (array CGH), are limited by the comparatively lower-resolution. Genetic variants such as loss of heterozygosity are difficult to be detected using traditional methods.
GGA SNP array with its superior sensitivity and resolution can determine the causes for clinical abnormalities. It is a more EFFICIENT test to detect small variations across the whole chromosome set and we able to provide COMPREHENSIVE genetic counseling service, to aid physicians in clinical diagnosis and organize the most helpful medical management, and help parents to understand recurrence risk and take action.
When to consider Postnatal SNP microarray
- Unexplained developmental delays.
- Unexplained intellectual disabilities.
- Autism spectrum disorders.
- Congenital defects/dysmorphism.
- Other congenital anomalies with unknown cause.
Sample Requirement
Blood: 3-5 mL
Finding genetic etiology by different genetic testing
SNP microarray and WES can be used in conjunction with each other. Both of the tests cannot replace each other.
To provide a comprehensive service for you while considering the limitations in every genetic testing, GGA provides Whole Exome Sequencing (WES) as well!
Now GGA would like to extend favors to the patient who chooses SNP microarray analysis, patient will get a discount on WES, it is applicable for Newborn & Childhood genetic test.
Kindly contact us for discount details.
For more information about WES, please visit: https://www.ggasia.com.my/services/whole-exome-sequencing/
GGA Postnatal SNP Microarray with both CNV and SNP markers could identify genomic copy number changes and homozygosity, such as Absence of Heterozygosity (AOH) and Uniparental Disomy (UPD), to help determine the genetic causes in children with health issues more effectively and give them the most appropriate care they need and deserve.
Why choose GGA Postnatal SNP microarray?
- Combines copy number markers with SNP markers at a high density to provide the highest resolution and coverage.
- Able to detect more chromosomal abnormalities such as AOH, UPD and triploidy in one test.
- Provide comprehensive genetic counseling support to clinicians.
- CAP-accredited laboratory with over 12 years of experience in genetic testing.
- GGA clinical studies^ yield a rich collection of genetic and clinical data on SNP microarray.
^References:
- J FORMOS MED ASSOC. Mar 2019, 118(3), 739-742
- Pediatrics and Neonatology. (2020) 61, 343-345
- Acta Obstet Gynecol Scand. 2020 Jun;99(6):775-782.
What is SNP microarray?
SNP Microarray is an efficient test with both Copy Number Variations (CNV) and Single Nucleotide Polymorphism (SNP) markers that could identify numerical and large segmental chromosomal changes, microdeletions/ microduplications, and homozygosity to help determine the genetic causes of abnormal findings and/or abnormal screening results.
When to consider SNP microarray for Newborn/Child?
- Unexplained developmental delays.
- Unexplained intellectual disabilities.
- Autism spectrum disorders.
- Congenital defects/dysmorphism.
- Other congenital anomalies with unknown cause.
What is the main advantages of SNP microarray when compared to low pass whole genome sequencing for prenatal testing?
GGA SNP microarray contains a combination of copy number and SNP probes. This allows detection of uniparental disomy (UPD) and Loss of heterozygosity (LOH) as well as copy number changes and mosaic events. In low pass whole genome sequencing also called CNV-Seq there will be no information on SNPs, meaning you will miss any instances of UPD or LOH which may have a serious impact to the health of a child. Therefore the use of the GGA SNP microarray provides more information than with current CNV-Seq methods.
The use of CNV-Seq or other whole genome sequencing approaches to our knowledge, is not currently recommended by any of the main societies, whereas microarray is generally recommended as the first-tier test when invasive prenatal testing is involved and is an excellent tool to complement or confirm other non-invasive approaches.
How long does it take to receive the result of SNP microarray?
SNP Microarray has an average turn-around-time of 7-10 working days.
