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SNP microarray for Newborn/Child Genetic Testing

SNP microarray for Newborn/Child Genetic Testing

Description

Overview
Documentation

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.

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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.

Postnatal-SNP-microarray-01

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 and fewer types of genetic changes. Genetic variants such as loss of heterozygosity or triploidy 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 variation across the whole chromosome set and we able to provide COMPREHENSIVE genetic counseling service, to aid physicians in clinical diagnosis and provide 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

GGA Postnatal SNP Microarray with both CNV and SNP markers could identify genomic copy number changes and homozygosity, such as Absence of Heterozygosity (AOH), Uniparental Disomy (UPD) and triploidy, to help determine the genetic causes in children 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:

  1. J FORMOS MED ASSOC. Mar 2019, 118(3), 739-742
  2. Pediatrics and Neonatology. (2020) 61, 343-345
  3. Acta Obstet Gynecol Scand. 2020 Jun;99(6):775-782.

Documentation

Brochure

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