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Updated: Jul 16, 2025
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Collection and Extraction of Saliva DNA for Next Generation Sequencing
Published on: August 27, 2014
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Saliva DNA: An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism.
Dale Cameron Wright1,2, Maria Lourdes Baluyot1, Johanna Carmichael1
1Cytogenetics Department, Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
American Journal of Medical Genetics. Part A
|September 16, 2023
Summary
Saliva DNA is a viable alternative for chromosomal microarray analysis (CMA) in children with autism, eliminating the need for blood draws. This noninvasive method simplifies genetic testing for autism spectrum disorder (ASD).
Area of Science:
- Genetics
- Developmental Neuroscience
Background:
- Chromosomal microarray analysis (CMA) is crucial for diagnosing autism spectrum disorder (ASD).
- Traditional blood DNA collection for CMA presents significant challenges for autistic children, often requiring sedation or restraint.
- Noninvasive saliva DNA collection is an alternative, but its efficacy for CMA in ASD has not been established.
Purpose of the Study:
- To evaluate the effectiveness of saliva DNA for single nucleotide polymorphism (SNP) CMA in autistic children.
- To determine if saliva DNA can provide accurate copy number variation (CNV) detection comparable to blood DNA.
Main Methods:
- Saliva DNA was collected from 48 autistic probands and 133 parents.
- Single nucleotide polymorphism (SNP) CMA was performed on the collected saliva DNA.
- Results were compared with existing blood-based CMA data from a subgroup of 17 probands and between probands and carrier parents.
Main Results:
- SNP CMA using saliva DNA was successful in 98.5% of cases (131/133).
- No discordant copy number variant (CNV) results were observed between probands and carrier parents or in comparison to previous blood-based CMA.
- Acceptable mean size differences in CNV detection were noted, indicating high accuracy.
Conclusions:
- Saliva DNA is a suitable and accurate alternative for SNP CMA in the investigation of autism.
- This noninvasive approach can significantly improve the clinical practice for genetic testing in autistic children, avoiding stressful blood collection procedures.
