Paediatric global delay Define&Decide

Genetic testing is clinically indicated for paediatric patients meeting the following criteria:

• Children with a significant delay in ≥2 developmental domains (physical, cognitive, speech/language, social, and emotional)
• Children with an autism spectrum disorder
• Children presenting with unexplained dysmorphic features or congenital anomalies

Genetic testing provides clinically actionable insights that identify the underlying aetiology of GDD/ID and support evidence-based management decisions. Identifying a genetic cause enables earlier, condition-specific management and intervention, targeted surveillance for associated medical risks, and accurate recurrence risk assessment essential for family planning.

A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to a disorder causing GDD/ID.

We will report on pathogenic or likely pathogenic variants identified in disease-associated genes. Variants of unknown significance (VUS) are reported when there is not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing of family members may be recommended to aid interpretation. Please note that if pathogenic variants are not identified, this does not exclude the possibility of a disorder due to unknown genetic factors or non-genetic causes.

A summary of findings and recommendations is included, with interpretation relying on an accurate clinical picture of the patient.

Genetic test results should always be interpreted in the context of the patient’s clinical presentation. A normal or inconclusive result does not fully exclude a genetic or molecular cause, as testing is limited by current knowledge, available methodologies, and the genes or regions analysed.

Depending on the findings, the following next steps may be considered:

• Clinical follow-up: Further medical evaluation or targeted assessments may help clarify the relevance of the results and guide patient management.
• Reference to guidelines: Clinicians may refer to current international recommendations for diagnosis, surveillance, and treatment where applicable.
• Reanalysis or expanded testing: If symptoms evolve or new scientific insights become available, re-evaluation of existing data or additional testing may be appropriate.
• Familial implications: If a clinically relevant variant is identified, genetic counselling and targeted testing for at-risk relatives may be offered.
• Variants of uncertain significance: These findings should not be used for predictive testing. Their interpretation may change over time, and periodic review can be considered.
• Genetic counselling: Recommended for all patients to support result interpretation, discuss implications, and guide decision-making for both the individual and family.

is an essential part of the testing process and is available both before and after testing. Our genetic counsellors conduct comprehensive family history assessments, explain the chosen testing methodology, its benefits, risks, and limitations, and provide guidance on result interpretation, management strategies, and recurrence risk. Counselling supports physicians in delivering informed care and helps patients and families make well-informed medical decisions. Availability of genetic counselling services may vary by country, so please to check for more information on access in your region.

In our laboratory, we utilise cutting-edge techniques to guarantee that our clients receive accurate, advanced diagnostic results.

We employ a comprehensive, multi-platform approach to maximise diagnostic yield:

• detects pathogenic copy number variants (CNVs).
• technologies offer a reliable and highly sensitive diagnostic method, enabling the cost-effective, parallel sequencing for hereditary cancer gene panels with extremely high capacity.