Knowledge Base for rare diseases & genetic syndromes

Diagnosis & Testing

What is Genetic Testing?

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

Concerned Parents

Developmental Delay in Children – Parents Guide

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

Concerned Parents

Developmental Milestones – Parents Guide

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

Concerned Parents

Language Development Milestones – Parents Guide

What are language development milestones?

Diagnosis & Testing

What is Genetic Analysis?

How does advanced genetic analysis work? Why is genetic analysis important?

Diagnosis & Testing

O que é telegenética?

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

Segunda opinião

Misdiagnosis and Rare Genetic Syndromes

Why is misdiagnosis more common in some rare genetic syndromes than others?

Diagnosis & Testing

Explaining Inheritance Modes and Patterns

Understanding how genetic syndromes are inherited is important in understanding the causes of rare diseases.

Câncer

Supporting a Family Member With Cancer

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

Diagnosis & Testing

Support Groups and Networks for Families Facing a Diagnosis

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

Autism

Understanding Autism – The Signs of Autism in Babies

Identifying and understanding the signs of autism in babies.

Doença rara

Extremely Rare Diseases

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

Concerned Parents

Developmental Delays in Children – Gross Motor Delay

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

Doença rara

What are the Main Rare Nervous System Diseases?

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

Diagnosis & Testing

Genetic Counseling – What to Expect

Genetic counseling is an essential part of providing support and information to those on a rare disease diagnosis journey.

Diagnosis & Testing

Genetic Diagnosis for Rare Disease – An overview

Genetic diagnosis for rare disease can be a complicated process. We explore why that is.

Diagnosis & Testing

Who is a Genetic Counselor?

Understand more about the role of a genetic counselor and the services they provide.

Diagnosis & Testing

Finding Genetic Testing Near Me

Genetic testing near me - the challenges faced, and the solutions for access to screening.

Diagnosis & Testing

Online Genetic Counseling

Online genetic counseling is improving access to an essential support service for rare disease families.

Diagnosis & Testing

What is Telegenetic Counseling?

Telegenetic counseling is an exciting new development in the field of genetic counseling.

Diagnosis & Testing

What is DNA Testing?

Understand more about what DNA testing is, and why it might be recommended.

Diagnosis & Testing

The Main Genetic Screening Tests

The main genetic screening tests - what are they, and what can they tell us.

Concerned Parents

Developmental Delay in Adults

Understanding developmental delay in adults- including its signs and causes.

Autism

The Signs of Autism in Toddlers

How to identify the signs of autism in toddlers, and the challenges faced with this.

Doença rara

Tay-Sachs Symptoms

Understanding Tay-Sachs symptoms, as well as the causes of this serious rare disease.

Doença rara

What is Chromosomal Microdeletion?

Learn more about what chromosomal microdeletion is, and the rare diseases it can cause.

Doença rara

3 Rare Disease of the Muscular System

Rare disease of the muscular system - what are they, and what causes them.

Diagnosis & Testing

Cell Free DNA Testing

Cell free DNA Testing- what is it, and when is it necessary? Learn more here.

Diagnosis & Testing

Fragile X Genetic Testing

Genetic testing for Fragile X, learn more about how this rare disease is diagnosed.

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The Main Signs of Angelman syndrome

Main signs of Angelman syndrome, understand more.

Diagnosis & Testing

What Genetic Testing can Reveal

What can genetic testing reveal? We explain in detail.

Diagnosis & Testing

What is a Chromosome Test?

Understand more about what a chromosome test is, and why it might be recommended.

Diagnosis & Testing

Genetic Down Syndrome Testing: A guide

Genetic Down Syndrome Testing - the options, the processes and the results.

Diagnosis & Testing

What is Non-Invasive Genetic Testing?

Non-invasive genetic testing is screening during pregnancy. Learn More.

Diagnosis & Testing

The Diagnosis of Chromosomal Abnormalities

Diagnosis of Chromosomal abnormalities - what and why.

Diagnosis & Testing

A Childhood Genetic Diagnosis

Childhood genetic diagnosis - what and why.

Diagnosis & Testing

Genetic Diagnosis Ehlers-Danlos syndrome

Genetic diagnosis of Ehlers-Danlos syndrome - the process and the challenges involved.

Diagnosis & Testing

Preconception Genetic Testing

What is preconception genetic testing? Understand more about the types and possible results.

Diagnosis & Testing

5 Things a Genetic Counselor Does for a Family

The 5 things a genetic counselor can do for a family.

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Genetic Diseases Passed From Mother to Son

Genetic diseases passed from mother to son - their causes and symptoms.

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The Facial Features of Genetic Diseases

The main facial features of genetic diseases - what are they?

Autism

Early Signs of Autism – What do Parents Need to Know?

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

Concerned Parents

Signs of Speech Delay in my Child

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

Autism

The Main Symptoms of Autism in Adults

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

Concerned Parents

Gross Motor Delay Causes in Infants & Children

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

Segunda opinião

Living With a Delayed Diagnosis

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

Segunda opinião

What is a Remote Second Opinion?

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

Diagnosis & Testing

What is Genetic Screening?

Genetic screening involves testing to identify changes in an individual’s genetic makeup and health.

Diagnosis & Testing

The Genetic Diagnosis Process – A guide

What is the genetic diagnosis testing? We explain the different stages of reaching a diagnosis for a rare disease.

Diagnosis & Testing

How to Find a Genetic Counselor

How to find a genetic counselor - what to look for and the limitations.

Diagnosis & Testing

Genetic Testing Companies & You

Genetic testing companies - what type of testing do they offer and why.

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Rare Disease Specialists Near Me

How to find rare disease specialists near me? We help you understand how to navigate the process.

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The 5 Most Common Rare Diseases in Children

Rare diseases in children - we take a look at the 5 most common by prevalence and diagnosis.

Concerned Parents

Developmental Delay in Babies – Parents Guide

Understanding developmental delay in infants - including its signs and causes.

Autism

Autism Symptoms Checklist

Our autism symptoms checklist - the main symptoms of ASD explained.

Autism

The Signs of Autism in Teenagers

Identifying the signs of autism in teenagers, and the challenges they face.

Doença rara

What are Rare Degenerative Diseases?

Rare degenerative diseases - what are they, and what causes them.

Doença rara

What is X-linked inheritance?

Understand more about X-linked inheritance and rare diseases.

Diagnosis & Testing

Marfan syndrome Genetic Testing

Genetic testing for Marfan, learn more about how this rare disease is diagnosed.

Diagnosis & Testing

Sibling DNA Testing

Sibling DNA Testing- learn more about the process, and reasons for this type of testing.

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Rare Behavioral Disorders

Rare behavioral disorders - what are they, and what causes them.

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The Main Signs of Williams syndrome

Main signs of Williams syndrome, understand more.

Diagnosis & Testing

Genetic Diagnosis for Inherited Diseases

Genetic diagnosis of in inherited diseases - the process and the challenges involved.

Diagnosis & Testing

Genetic Diagnosis in Adults

Genetic diagnosis in an adult - what and why.

Doença rara

What are the Early Signs of a Chromosomal Abnormality?

Early signs of a chromosomal abnormality - what are they?

Doença rara

10 Different Genetic Disorders

10 different genetic disorders - the main ones.

Autism

The 3 Main Symptoms of Autism

The 3 main symptoms of autism - what are they?

Autism

Understanding Autism – The Signs of Autism in Children

Identifying and understanding the signs of autism in children.

Segunda opinião

Our Child has a Wrong Diagnosis, What Next?

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

Concerned Parents

The Causes of Speech Delay

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

Autism

Identifying and Understanding Mild Autism Symptoms

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

Concerned Parents

Gross Motor Milestones in Infants and Children

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

Concerned Parents

What are the Main Chromosome Diseases?

What are chromosome diseases? How are chromosome diseases diagnosed?

Concerned Parents

Can I Identify Speech Delay at 18 Months?

Speech delay at 18 months - the milestones, and the causes.

Diagnosis & Testing

What can Genetic Counseling tell you?

What can genetic counseling tell you? We explain the benefits of this essential and important service.

Diagnosis & Testing

What are the Different Types of Genetic Counseling?

Understand more about the different types of genetic counseling, and their important support services.

Diagnosis & Testing

Genetic Counseling and Testing Near Me

How to find genetic counseling and testing near me? We explore the options available.

Diagnosis & Testing

Who is Genetic Counseling Recommended for?

Who is genetic counseling recommended for? We explain who this important service benefits.

Diagnosis & Testing

What is Chromosomal Microarray?

What is chromosomal microarray within the context of genetic testing.

Diagnosis & Testing

Genetic Disorders Detected by Genetic Screening

We explore which genetic disorders can be detected by genetic screening, and by which types of genetic testing too.

Doença rara

The Challenges Facing Rare Disease Patients

We explore some of the main challenges rare disease patients face in their journey towards a genetic diagnosis.

Doença rara

Single Gene Disorders

What are single gene disorders, what causes them, and how are they diagnosed.

Concerned Parents

When to Worry About Speech Delay (or not)

When to worry about speech delay? We answer your concerns.

Diagnosis & Testing

Genetic Diagnosis Lysosomal Storage Disorders

Genetic diagnosis of lysosomal storage disorders - understand the process, and the rare diseases themselves.

Diagnosis & Testing

NIPT Testing

NIPT testing- what is it, and when is it necessary? Learn more here.

Diagnosis & Testing

Genetic Diagnosis for Angelman syndrome

Genetic diagnosis of Angelman syndrome - the process and the challenges involved.

Diagnosis & Testing

Why Would a Doctor Order Genetic Testing?

Why would a Doctor order genetic testing? We explore the reasons.

Segunda opinião

What is a Diagnostic Odyssey?

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

Câncer

Is Cancer a Genetic Condition?

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

Autism

What are the Main Symptoms of Autism in Girls?

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

Concerned Parents

Why Does my Baby Have a Crawling Delay?

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

Segunda opinião

Received an Ehlers-Danlos misdiagnosis? Next Steps

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

Segunda opinião

Received a Turner syndrome Misdiagnosis?

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

Concerned Parents

3 Year Old is Not Talking. Next Steps?

Tracking a child’s speech development and how to receive help in supporting their speech.

Diagnosis & Testing

Genetic Analysis – An explanation

Genetic analysis is a process by which we can understand a person’s potential risk for a rare disease or genetic syndrome.

Diagnosis & Testing

What are the Roles of a Genetic Counselor?

The roles of a genetic counselor are many and varied. We explore them all.

Diagnosis & Testing

The Future of Genetic Analysis Tools

We explore the technologies driving new genetic analysis tools, and what they mean for rare disease patients.

Diagnosis & Testing

What are the Most Common Genetic Tests?

Learn more about the most common genetic tests available today, and what they can tell us.

Diagnosis & Testing

Genetic Counseling for Fragile X Syndrome

Genetic Counseling for Fragile X - understanding more about this crucial and important support service.

Diagnosis & Testing

What is Diagnostic Genetic Testing?

What is diagnostic genetic testing, and why is it important? We answer these important questions.

Diagnosis & Testing

What is At-home Genetic Testing?

At-Home Genetic Testing is on the rise, we understand why and what it entails.

Doença rara

Rare Disease Awareness

Rare disease awareness - why it is so important to raise awareness around rare diseases.

Autism

Autism Spectrum Disorder Symptoms

Autism Spectrum Disorder symptoms - what are they are, and how to identify them.

Doença rara

The Most Common Chromosomal Abnormalities

What are the most common chromosomal abnormalities and the rare diseases they cause?

Diagnosis & Testing

Autism and Genetic Testing

Autism and Genetic Testing - Learn More

Diagnosis & Testing

What is Genetic Testing for Children?

Genetic testing for children involves the testing of an individual's DNA in order to identify potential gene changes.

Doença rara

Chromosome Deletion Syndromes List

Chromosome deletion syndromes - the main ones.

Diagnosis & Testing

Desordens genéticas em crianças

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

Diagnosis & Testing

How do I Check for Paternity?

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

Diagnosis & Testing

What is Prenatal Genetic Testing?

Understanding the different types of prenatal genetic testing.

Autism

What are the Signs of Autism in Boys?

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

Concerned Parents

What are the Reasons for Late Walking in Babies?

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

Autism

The Main Signs of Autism in a 3 Year Old?

What is the next step for parents who have identified possible autism symptoms in their 3 year old?

Diagnosis & Testing

What is Genetic Health Testing?

Understand more about what genetic health testing is, and why it might be recommended.

Diagnosis & Testing

Genetic Diagnosis – A definition

Genetic diagnosis- learn more about the process, and what it entails.

Diagnosis & Testing

Genetic Screening in a Newborn

Genetic screening in a newborn is a standardized form of screening in the US. Learn more about what it screens for.

Diagnosis & Testing

How to Diagnose a Rare Disease

How to diagnose a rare disease? We explore the options, solutions, and processes involved in genetic diagnosis.

Diagnosis & Testing

Genetic Counseling for Down Syndrome

Genetic counseling for Down syndrome - what and why, we explain this essential service.

Diagnosis & Testing

Genetic Counseling for Turner Syndrome

Genetic Counseling for Turner syndrome - understanding more about this crucial and important support service.

Diagnosis & Testing

Direct-to-Consumer Genetic Testing

Learn more about direct-to-consumer genetic testing, and what it can tell us.

Autism

Is Autism Genetic?

Is autism genetic? Explore the genetic factors behind autism.

Doença rara

What is a Zebra Disease?

Understanding a Zebra disease - what it is, and how it got its name.

Diagnosis & Testing

Pediatric Genetic Testing – When to Test Kids

Pediatric genetic testing - what is it, and when is it necessary? Learn more here.

Diagnosis & Testing

Pediatric Genetic Counseling

What is pediatric genetic counseling? Understand more about their specialist role.

Concerned Parents

What is Genetics in Child Development?

Genetics in child development - what does it mean?

Diagnosis & Testing

Questions to ask a Genetic Counselor

Our suggestions for questions to ask a genetic counselor.

Doença rara

Rare Congenital Diseases

Rare Congenital Diseases - what are they?

Doença rara

Living With a Rare Disease

Living with a rare disease - the challenges.

Doença rara

5 Genetic Disorders With a Small Head

Genetic disorders with a small head - 5 main ones.

Concerned Parents

14 Month Old is Not Walking, When to Worry?

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

Segunda opinião

We Have a Fabry Disease Misdiagnosis

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

Diagnosis & Testing

Genetic Analysis Testing – Everything you need to know

The more we understand about genetic analysis testing, the more we increase the accuracy of a diagnosis.

Diagnosis & Testing

Genetic Technologies – A closer look

We explore the genetic technologies driving new analysis tools, and what they mean for rare disease patients.

Diagnosis & Testing

What is a Genetic Analysis Platform?

What is a genetic analysis platform, and how is it improving the accuracy of a genetic diagnosis.

Diagnosis & Testing

What is Genetic Carrier Screening?

Understand more about what genetic carrier screening is, what it can tell us, and who it is recommended for.

Diagnosis & Testing

Diagnostic Odyssey for Rare Disease

Understand what is a diagnostic odyssey for rare disease, and how we improve rates and accuracy of genetic diagnosis.

Diagnosis & Testing

What is Genetic Counseling During Pregnancy?

Genetic Counseling during pregnancy may be recommended for several reasons. Understand more about these here.

Doença rara

Understanding Rare Disease Symptoms

Rare disease symptoms can be many and varied. Learn more about how they can help aid a correct diagnosis.

Concerned Parents

Developmental Delay in Toddlers – Parents Guide

Understanding developmental delay in toddlers - including its signs and causes.

Concerned Parents

The Reasons for Speech Delay in Toddlers

The reasons for speech delay in toddlers - examples and causes of this delay.

Diagnosis & Testing

Ehlers-Danlos Genetic Testing

Genetic testing for Ehlers-Danlos, learn more about how this complicated rare disease is diagnosed.

Doença rara

Klinefelter Syndrome Facial Features

Klinefelter syndrome - facial features, symptoms, causes and more.

Doença rara

Down Syndrome Facial Features

Down syndrome - facial features, symptoms, causes and more.

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The Main Signs of Pitt-Hopkins syndrome

Main signs of Pitt-Hopkins syndrome, understand more.

Diagnosis & Testing

What is Genetic Testing for a Baby?

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

Diagnosis & Testing

Genetic Diagnosis for Marfan syndrome

Genetic diagnosis of Marfan syndrome - the process and the challenges involved.

Diagnosis & Testing

Virtual Genetic Counseling

What is virtual genetic counseling? Understand more about this new service.

Doença rara

What is Lionitis Disease?

What is Lionitis Disease? Learn more about this rare disease here.

Diagnosis & Testing

What is a Certified Genetic Counselor?

What is a certified genetic counselor? Understand more about this crucial and specialized role.

Doença rara

Extremely Rare Conditions

Extremely rare conditions - the main ones.

Concerned Parents

How to Talk to Your Child’s Pediatrician About Developmental Delays

How to Talk to Your Child's Pediatrician About Your Concerns Regarding Developmental Delays

Concerned Parents

How AI Technology Can Help Clinicians and Parents Identify Children with Developmental Delays

AI Technology Can Help Identify Children with Developmental Delays

Concerned Parents

Developmental Milestones: What Every Parent Should Know

Diagnosis & Testing

Genetic Counseling vs Genetic Testing: An overview

Genetic counseling and genetic testing are both crucial steps in the diagnosis of a rare disease.

Diagnosis & Testing

New Genetic Analysis Methods

Facial analysis screening and other new genetic analysis methods are improving the accuracy of rare disease diagnosis.

Diagnosis & Testing

The Challenges of Finding a Genetic Counselor Near Me

We look into the challenges of finding a genetic counselor near to you, and how to overcome them.

Diagnosis & Testing

Improving Genetic Diagnosis

Improving genetic diagnosis involves improving access to crucial services, including genetic counseling.

Diagnosis & Testing

Options for Genetic Testing Online

Genetic testing online - what are the options, and what does the process involve?

Diagnosis & Testing

Advanced Telegenetic Counseling

Advanced Telegenetic Counseling is improving access to a more accurate diagnosis.

Doença rara

Types of Genetic Inheritance

Rare disease awareness - why it is so important to raise awareness around rare diseases.

Diagnosis & Testing

Genetic Diagnosis Benefits

Genetic diagnosis benefits, and more. Understand the importance of an accurate diagnosis.

Diagnosis & Testing

Microcephaly Diagnosis: Is it Genetic?

Genetic diagnosis Microcephaly - understand more about this potential symptom of a rare disease.

Doença rara

What is Autosomal Dominant Inheritance?

Understand more about autosomal dominant inheritance and rare diseases.

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What is Autosomal Recessive Inheritance?

Understand more about autosomal recessive inheritance and rare diseases.

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Fragile X Syndrome Facial Features

Fragile X syndrome - facial features, symptoms, causes and more.

Diagnosis & Testing

Genetic Testing for Developmental Disorders

Genetic testing for developmental disorders - what it is, and what does it involve.

Diagnosis & Testing

A Day in the Life of a Genetic Counselor

Understand more about the day in the life of a genetic counselor, and their different roles.

Diagnosis & Testing

How to Diagnose a Genetic Disorder

Understand more about diagnosis of a genetic disorder, the process, and implications for patients.

Diagnosis & Testing

What is Genetic Testing for Angelman syndrome?

Genetic testing Angelman syndrome - what and why.

Diagnosis & Testing

The Advantages of Genetic Testing

What are the advantages of genetic testing? We explore the main ones here.

Autism

Rare Disease with Autism Symptoms

Rare Disease with autism symptoms - what are they?

Diagnosis & Testing

What is Genetic Consultation?

Genetic consultation- what, why, and it's role in improving diagnosis

Diagnosis & Testing

DNA Diagnosis – A guide

Understand all there is to know about genetic testing with our informative guide to DNA diagnosis.

Diagnosis & Testing

Who is a Pediatric Genetic Counselor?

What is a pediatric genetic counselor? Understand more about their specialist role.

Diagnosis & Testing

Diagnosis of a Genetic Disease

Understand more about diagnosis of a genetic disease, the process, and implications for patients.

Diagnosis & Testing

Pediatric Geneticists Near Me

Looking for a pediatric geneticist near me - how do I go about finding the right expert.

Diagnosis & Testing

Genetic Counseling for Klinefelter Syndrome

Genetic Counseling for Klinefelter - understanding more about this crucial and important support service.

Concerned Parents

What is Cognitive Developmental Delay?

Understanding cognitive development delay - what it might look like, and the possible causes.

Diagnosis & Testing

We Answer Your Genetic Diagnosis Questions

We answer your genetic diagnosis questions. Learn more about this important support service.

Diagnosis & Testing

Genetic Diagnosis in a Baby

Genetic diagnosis in a baby - what and why.

Diagnosis & Testing

Genetic Counseling Services

Genetic counseling services - understanding more about this crucial and important support service.

Doença rara

The Most Common Genetic Disorders in Babies

The main genetic disorders in babies - what are they?

Doença rara

Diseases That Run in Families

Diseases that run in families - the main ones.

Diagnosis & Testing

We Answer Your Genetic Counseling Questions

We answer your genetic counseling questions. Learn more about this important support service.

Diagnosis & Testing

What is Prenatal Genetic Counseling?

Prenatal genetic counseling - understand more about this support service for parents-to-be.

Diagnosis & Testing

Rare Disease Genetic Testing

Understanding rare disease genetic testing, and what it can tell us.

Doença rara

What Causes Rare Diseases?

Understanding the causes of rare diseases, including the ways in which they can be inherited.

Diagnosis & Testing

DNA Analysis Online

What is DNA analysis online, and what does it mean for rare disease patients?

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How Rare are Rare Diseases?

How rare are rare diseases? Understand more about their prevalence.

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Why is Rare Disease Day Important?

Rare disease day - and why it is so important for rare disease patients and families.

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Ehlers-Danlos Facial Features

Ehlers-Danlos syndrome - facial features, symptoms, causes and more.

Diagnosis & Testing

What is a Genetic Risk Assessment?

What is a genetic risk assessment, and how is it improving the accuracy of a genetic diagnosis.

Diagnosis & Testing

Genetic Diagnosis for Trisomy 13

Genetic diagnosis of Trisomy 13 - the process and the challenges involved.

Diagnosis & Testing

What is Genetic Testing for Turner syndrome?

Genetic testing Turner syndrome - what and why.

Doença rara

5 Genetic Illnesses

5 genetic illnesses - the main ones explained in more detail.

Diagnosis & Testing

Pregnancy After a Genetic Diagnosis

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

Knowledge Base Hub

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