Presentation October 16th 2018

Multiplex Real-time PCR Newborn Screening Assay to Simultaneously Identify Spinal Muscular Atrophy and Severe Combined Immunodeficiency


Spinal muscular atrophy (SMA) is one of the most common lethal recessive genetic conditions, with an incidence of 1 in 10,000 births. The condition is associated with significant motor disability, respiratory and nutritional compromise, and death in infancy or childhood in more than 50% of affected children. Epidemiological data indicates that symptom onset before 18 months of age occurs in more than 80% of affected children. There is significant neuronal loss within the first six months in infants with SMA type I, the most severe form of SMA. The majority of undiagnosed affected infants who present in their first 12 months have medical crisis with acute respiratory failure. By the time a diagnosis is made, these infants are often severely nutritionally compromised, potentially exacerbating irreversible loss of neurological function and the resulting compromised respiratory reserve. There have been considerable advances toward the development of new therapies for SMA. The recently US FDA approved new treatment for SMA has led to increased interest in newborn screening (NBS) in public health contexts. SMA detection can be multiplexed, at minimal additional cost, with existing screening assays used to identify severe combined immunodeficiency (SCID) infants. 

Here we report a real-time PCR assay to simultaneously measure copy numbers of three different DNA segments using DNA extracted from a single 3.2mm punch of a dried blood spot. The PCR assay identifies the absence of exon 7 in the SMN1 gene while simultaneously evaluating the copy number of the T-cell receptor excision circles (TREC). Additionally, the amplification of a reference gene, RPP30, was included in the assay as a quality/quantity indicator of DNA isolated from the dried blood NBS specimens.

The presentations are available for educational exchange purposes only. Products mentioned in the presentation may not be available in your country. Please consult your local PerkinElmer representative for the products available in your country
This website stores cookies on your computer. These cookies are used to improve our website and provide more personalised services to you.


To make this site work properly, we sometimes place small data files called cookies on your device. Most big websites do this too.

1. What are cookies?

A cookie is a small text file that a website saves on your computer or mobile device when you visit the site. It enables the website to remember your actions and preferences (such as login, language, font size and other display preferences) over a period of time, so you don’t have to keep re-entering them whenever you come back to the site or browse from one page to another.

2. How do we use cookies?

A number of our pages use cookies to remember your actions and preferences (such as login, language, font size and other display preferences.)

Also, some videos embedded in our pages use a cookie to anonymously gather statistics on how you got there and what videos you visited.

Enabling these cookies is not strictly necessary for the website to work but it will provide you with a better browsing experience. You can delete or block these cookies, but if you do that some features of this site may not work as intended.

The cookie-related information is not used to identify you personally and the pattern data is fully under our control. These cookies are not used for any purpose other than those described here.

3. How to control cookies

You can control and/or delete cookies as you wish – for details, see You can delete all cookies that are already on your computer and you can set most browsers to prevent them from being placed. If you do this, however, you may have to manually adjust some preferences every time you visit a site and some services and functionalities may not work.