Knowledge Base Hub

Genetic testing involves the testing of an individual's DNA in order to isolate and identify potential gene problems.

Genetic counseling is a crucial part of the diagnostic journey that provides invaluable information and support.

What are some of the most commonly identified developmental delays in children?

What are developmental milestones? What are the main stages of child development?

What are language development milestones? How can I help my child reach their language development milestones?

What should I do if I suspect my child is showing symptoms of a rare nervous system disease?

What is a rare genetic disease? How are they diagnosed? What are the recent developments in the field?

Understanding how genetic syndromes are inherited is important in understanding the causes of rare diseases, and how they might affect future pregnancies for families with a history of genetic syndromes.

Rare disease support groups are a critical part of the support families receive during their diagnostic journey.

Why is misdiagnosis more common in some rare genetic syndromes than others? A cross-sectional study in China provides us with some answers

Telegenetics enables the provision of traditional genetic services and genetic testing via Telehealth.

Identifying and understanding the signs of autism in babies.

When should I be concerned about my child's development?

Understand more about the steps you can take to support a family member with a new diagnosis.

What's an extremely rare disease? What are the rarest diseases currently identified?

Speech delay is one of the many concerns of parents as they track their child’s developmental milestones.

What are the early signs of autism? What should I do if I identify early signs of autism in my child?

How does autism look different in adults and why? How and why might an adult be diagnosed?

What are the main signs and symptoms of gross motor delay in infants and children?

What is a delayed diagnosis? What is the impact of a delayed diagnosis? How do I speed up a delayed diagnosis?

Why do I need a second opinion for a rare disease diagnosis?

What are some of the signs of speech delay in my child? What are the main causes of speech delay?

What are mild autism symptoms? When and how might they be noticed and diagnosed?

Identifying and understanding the signs of autism in children.

Definition of gross motor skills. What to do if you are concerned about your child's gross motor skills.

What are chromosome diseases? How are chromosome diseases diagnosed?

Receiving a wrong diagnosis can be devastating for both the patient concerned and their family.

The simple answer is yes, however in reality cancer is a complex disease with many different forms and variations.

Understanding the steps to take once you receive a rare disease diagnosis from genetic counseling to support options.

Girls are diagnosed less than boys. Why? How can autism present differently in girls?

Navigating a diagnostic odyssey can be a long and frustrating process, especially nowadays with the COVID-19 limitations.

My baby is not crawling - should I be worried? Understanding a crawling delay in your baby.

What is a remote second opinion? When it comes to a rare disease, misdiagnosis is a problem across the board.

What is Turner syndrome? How do we improve the diagnosis of Turner syndrome?

For many parents, guilt is a constant emotion as we raise our children. But it shouldn't when it comes to genetics.

Paternity testing involves taking a sample of a child's DNA and comparing it with the DNA of an alleged parent.

Understanding the different types of prenatal genetic testing.

How to identify the symptoms that present most strongly in boys and why. How a genetic analysis can help.

Definition of late walking in babies, the signs and the causes of it.

Walking expectation, signs and symptoms of a walking delay or a problem.

Why is Fabry disease so commonly misdiagnosed? How do we get the right diagnosis?

How to plan for another pregnancy when there's a child with a genetic condition in the family.