Inquire Autism Panel

Autism is a lifelong condition that belongs to a group of neurodevelopmental disabilities known as Autism Spectrum Disorders (ASDs). Our Autism screening Panel analyses over 230 genes associated with ASD and can aid in diagnosis of patients with suspected ASDs. For many children and adults, the everyday life can be significantly improved by a diagnosis and appropriate specialist support.

What is autism?

Autism is a lifelong condition that belongs to a group of neurodevelopmental disabilities known as autism spectrum disorders (ASDs), which also includes Aspergers syndrome and pervasive developmental disorder not otherwise specified (PDD‐NOS) (Lai, Betancur 1). The word ‘spectrum’ describes the range of difficulties people with an ASD may experience and the degree to which they may be affected. The main areas of difficulty are in the interaction and communication with other people and in restricted and/or repetitive behaviours. (Betancur, Yu, Vorstman JA, Sebat J) Individuals with ASD may also experience learning difficulties or may have intellectual impairment (Betancur).

Because of the very different ways ASDs is manifested it is hard to make an estimation of how common it is. (Betancur, Fombonne E. J) It is however more common for boys to have ASDs than girls. (Lai, Betancur 1)

The ASD-like symptoms usually appear around the age of 3 (Sebat et al) and can change over time as the person is exposed to new social situations and changing circumstances in life (Anderson, Smith).

Some people with ASD may be able to live relatively unproblematic lives, while others may need some more support with everyday challenges.

What are the genetic causes of autism?

There are very few studies that link the cause of autism to one single gene (Amir RE, European). Instead, most studies show that several genes seem to be involved, which is also why the symptoms can be so widely different (Sebat et al, Yu et al, Vorstman JA, et al, Betancur).

Can autism run in the family?

There are some rare cases of familial autism where scientist have been able to identify a few genes that could be linked to the autism syndromic features found in the family members. In some of these families it is enough for the affected child to inherit just one mutated gene from one of the parents in order to get the autism-like symptoms. In other families the affected child needs to have inherited two mutated genes, one from each parent, to get the autism syndromic features. In these cases the parents may be unaffected themselves, but are carriers of the mutated gene. (Yu, T.W et al, Betancur)

How is testing performed at EasyDNA?

In our autism screening panel we analyse 236 different genes that have been shown to be associated with ASD or autistic behaviours.

This screening test requires a medical blood draw from which DNA is extracted. Our testing is performed using Massive Parallel Sequencing (Next Generation Sequencing), which allows sensitive mutation detection and analysis of the coding regions of the 236 different genes, including exon-intron boundaries.

Results

This screening test can aid in diagnosis of patients with suspected autism spectrum disorders and serve as a tool when deciding on suitable ongoing support.

For many children and adults, the everyday life can be significantly improved by a diagnosis and appropriate specialist support (Lai).

Important

The Autism Panel screening test requires genetic counselling from a certified professional and must be handled by a Doctor. Upon confirmation of your order we will send you an email with the Referral forms your doctor or counsellor will complete and return (Fax) to us for approval before your sample collection kit is sent out. The results will be sent directly to the doctor or counsellor who will then discuss them with you.

If you are a family member and/or would like to talk to a genetic counsellor, please contact our customer care team and they will help you to find a qualified professional for the test you are considering.

Your confirmation email will also include a recommendation for one of our affiliated Pathology Collection Centres close to you. We will arrange your appointment and book the courier to collect your samples after your appointment. Please note, EasyDNA do not cover the cost of your sample collection by the pathology.

References

Amir RE, Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct;23(2):185-8.

Anderson DK, Changes in maladaptive behaviors from midchildhood to young adulthood in autism spectrum disorder. Am J Intellect Dev Disabil. 2011 Sep;116(5):381-97. doi: 10.1352/1944-7558-116.5.381.

Aggarwal SAngus BMisdiagnosis versus missed diagnosis: diagnosing autism spectrum disorder in adolescents. Australas Psychiatry. 2015 Apr;23(2):120-3. doi: 10.1177/1039856214568214. Epub 2015 Feb 4.

Betancur CEtiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Vorstman JA

2 Betancur , The  Neuroscience  of  Autism  Spectrum  Disorders Edited  by  Joseph  D.  Buxbaum  &  Patrick  R.  Hof Academic  Press,  Oxford Chapter  2.1 Etiological  heterogeneity  in  autism  spectrum  disorders:  role  of  rare  variants

European Chromosome 16 Tuberous Sclerosis Consortium., Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993 Dec 31;75(7):1305-15.

Fombonne E, Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry. 2005;66 Suppl 10:3-8.

Lai MC, Autism., Lancet. 2014 Mar 8;383(9920):896-910. doi: 10.1016/S0140-6736(13)61539-1. Epub 2013 Sep 26.

Marco EJ, Skuse DH. Autism-lessons from the X chromosome. Social cognitive and affective neuroscience. 2006;1(3):183-193. doi:10.1093/scan/nsl028.

Sebat J, Lakshmi B, Malhotra D, et al. Strong Association of De Novo Copy Number Mutations with Autism. Science (New York, NY). 2007;316(5823):445-449. doi:10.1126/science.1138659.

Smith LE, Developmental trajectories in adolescents and adults with autism: the case of daily living skills. J Am Acad Child Adolesc Psychiatry. 2012 Jun;51(6):622-31. doi: 10.1016/j.jaac.2012.03.001. Epub 2012 Apr 24.

Vorstman JA. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry. 2006 Jan;11(1):1, 18-28.

Yu TW, Chahrour MH, Coulter ME, et al. Using whole exome sequencing to identify inherited causes of autism. Neuron. 2013;77(2):259-273. doi:10.1016/j.neuron.2012.11.002.

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