Report 1738566104003
Report 1738566104003
YOUR DNA
RESULTS
Logan Phillips
Report Date: 30/01/2025
1 of 84 Personal Information
Personal
Information
Customer: Logan Phillips
Date of Birth: 27/11/2024
Gender: Female
Report Date: 30/01/2025 13:47
Sample ID: 2701-4065-3700-14
Table of Contents 2 of 84
Table of
Contents
01 Personal Information 31 Gender Traits
09 Diet 41 Pollution
28 Physical Traits
3 of 84 Welcome
Welcome
Dear Logan,
Welcome to your personalised Circle DNA test report. It’s our absolute pleasure to introduce you to you!
Your life is a story spelled out with your DNA. The most interesting facts that uniquely belong to you are
wrapped up in the strands of your genes. So, if you could rewrite your story – what would it say?
Circle Next Generation Sequencing (NGS) is the ultimate way to care for your future self by giving you a
wealth of information that allows you to alter what might have been your genetic destiny.
Our team of scientists have carefully analysed your saliva sample at our internationally-accredited
laboratory to bring you a living analysis of your DNA. In your report, you will discover insights into the
incredible story of your genome, your health, traits, and needs. Armed with this information, you will have
the power to live a longer, healthier and happier life.
By choosing Circle Next Generation Sequencing (NGS), you have joined countless individuals who have had
life-changing experiences due to the priceless data provided by genetic testing.
Read on to kickstart your journey, and to empower yourself with valuable and actionable health and
wellness insights so that you can make better choices, for you.
Getting Started
with Circle
To help you get the most out of this report, here’s a quick ‘Genetics 101’. Once you’ve got an
understanding of the basics, you’ll be all set to make the best use of your results and help apply
them to make the lifestyle changes that are right for you.
IMPORTANT TO KNOW
Circle reports tell you about genetic variations associated with certain traits
1. and health conditions. They do not diagnose for any conditions or determine
medical action.
Having a certain risk does not mean you will definitely develop a trait or
2. condition. Similarly, you could still develop a trait or condition even if you
don't have a mutation detected. It is possible to have other genetic
mutations not included in these reports.
Genetics isn’t a crystal ball - it cannot predict what will or won’t be. Factors
like lifestyle and environment can also affect whether a person develops a
3. health condition or trait. Our reports cannot tell you about your overall risk
for these conditions, and they cannot determine if you will or will not develop
a condition.
Genetics 101
Genes load the gun, but
lifestyle pulls the trigger.
To understand exactly what this means, it’s important to
know the basics of genetics.
What is DNA?
DNA - also known as deoxyribonucleic acid - is an extremely long chain of molecules that contains
the genetic blueprint of life on Earth. The DNA acts like a computer program - where the cell is the
hardware and the DNA is the code. This code contains all the instructions that a living organism needs
in order to grow, reproduce and function.
DNA is shaped like a ladder that’s been twisted to form what’s known as a double helix. The steps of
the ladder are made of four nucleotides also known as bases: Adenine (A), Thymine (T), Cytosine (C),
and Guanine (G). A always pairs with T, and G always pairs with C. Although there are only four bases,
the As, Cs, Ts and Gs combine in thousands of combinations to make up our entire DNA - which is a
total of 3 billion base pairs in length!
If someone were to unwind all the DNA molecules within a human body, the total length would reach
from the Earth to Pluto and back. A complete base genome would take up three gigabytes of storage
space. The entire human genome would take 50 years to type if someone types at a speed of 60
words-per-minute, eight hours a day!
T
G
Chromosomes
Cell
C
A
Gene
Nucleus
How it Works 6 of 84
How it Works
Chromosomes carry genetic information in a molecule called DNA. Genes are segments of DNA
that influence what we look like on the outside and how we work on the inside. They contain the
information our body needs to make chemicals called proteins, which form our bodily structure and
play an important role in the processes that keep us alive. We are born with two copies of every
gene - we inherit one copy from the father, and the other from the mother. The two genes interact
to make each of us a unique combination of our parents’ genetic identity.
Humans have 23 pairs of chromosomes, for a total of 46 chromosomes. Of these contain 22 pairs of
autosomes, which look the same in both men and women. However, the 23rd pair consists of one
allosome pair, the sex chromosome. Allosomes differ between males and females - males have an X
chromosome and a Y chromosome; females have two X chromosomes. These sex chromosomes
account for the biological differences between men and women.
Did you know? Mature red blood cells do not have DNA.
There are many different types of cells in the human body, such as nerve cells, hair cells, heart cells,
skin cells, and many more, all with different shapes and forms. The only human cells that do not
contain chromosome pairs are reproductive cells that carry just one copy of each chromosome.
Chromosomes vary in number and shape among living things - however, this doesn’t determine
how complex an organism is. For example, potatoes have 48 chromosomes - two more than
humans - but they’re certainly not more complex than us.
Different organisms also have different genes, which is ultimately why each organism looks and
functions uniquely. But one of the many reasons why scientists believe that all life on earth is
related, is that the basic DNA code – the language of A, C, T and G – is pretty much the same for
all living things. Many organisms even share some of the same genes as us. For example, any two
unrelated humans share 99.9% of their genes with one another. Humans and chimpanzees – who
are closely related – share 98.4% of their genetic code. Surprisingly, we also share roughly 50% of
our genes with bananas.
50%
7 of 84 Nature Vs Nurture
Nature Vs Nurture
Your genotype is the set of genes in your DNA which is responsible for a particular trait. The
phenotype is the physical expression, or characteristics, of that trait.
Most phenotypes are influenced by both your genotype and by the unique circumstances in which
you have lived your life, including everything that has ever happened to you. We often refer to these
as “nature” - the unique genome you carry - and “nurture” - the environment in which you have
lived.
In particular, diet and lifestyle factors are major environmental factors that influence the risks for
several common diseases such as diabetes, high blood pressure or high cholesterol. Importantly,
even if someone is at a high genetic risk for these common diseases, following a healthy diet and
lifestyle helps to reduce the risks. For example, studies have shown that high genetic risk for heart
disease can be reduced by 50% if a healthy diet and lifestyle are followed.
The graph on the right illustrates Diet & Lifestyle Poor Good
0 5 10 15 20
Years of Follow-Up
A variation in the DNA sequence is known as a genetic variation. Some DNA variations have been linked to health
issues. Other DNA variations are not related to health, but they may indicate interesting aspects such as your
physical traits, personality traits or behavioural tendencies. For example, you may have never considered traits such
as the texture of your earwax and whether or not you’re likely to get grey hair prematurely are related to your DNA.
Next Generation sequencing stands as a revolutionary gene sequencing technology, offering a significant leap
forward in genetic testing. This technology is distinguished by several key advantages when compared to traditional
gene sequencing techniques.
Its high throughput capability allows it to process millions of DNA molecules simultaneously, generating a large
amount of sequence data in a short time. It also features high sensitivity, detecting DNA samples even at very low
concentrations for accurate results. Lastly, it provides high-resolution sequence data, revealing subtle DNA
variations.
Through next-generation sequencing technology, we can detect and analyze variations in genes that may influence
our health. While gene variations can cause health conditions, some variations may not cause any health problems
and could even be beneficial to our bodies.
9 of 84 Diet
Diet
Take full control of your diet and nutrition by unlocking everything there is to know about your
dietary DNA profile. Learn about your body’s sensitivity to many of the foods you eat, whether or not
you have certain dietary allergies, and the impact your genes may have on your ability to digest
certain food groups. Supported by genetically-guided consultations, turn your DNA insights into
actionable food decisions that make your body happy.
Diet 10 of 84
Spice Sensitivity
Higher Sensitivity
Taste Sensitivity
Super-Taster
Non-Taster Super-Taster
Sweet Tooth
Higher Preference
Weight Regain
Average Risk
Nutrition
We all metabolise nutrients differently based on our unique genetic make-up. Your body already
knows what it needs, and now you can too by taking the guesswork out of which supplements to
choose and which nutrient-dense foods to eat. Learn about how your DNA plays a role in your
body’s ability to absorb certain vitamins and minerals, so that you can take control of your long-
term health with personalised nutrient recommendations.
13 of 84 Nutrition
Antioxidants Iron
Higher Needs Higher Needs
Biotin Magnesium
Normal Needs Higher Needs
Calcium Niacin
Normal Needs Normal Needs
Phosphorus Vitamin C
Normal Needs Normal Needs
Selenium Vitamin D
Higher Needs Normal Needs
Vitamin A Vitamin E
Normal Needs Normal Needs
Vitamin B2 Zinc
Normal Needs Normal Needs
Medium Strength Based on your genetic results, you will likely respond well to
sports that have an endurance and strength focus.
Very Low Lower Moderate Higher Very High Average Risk Elevated Risk
Normal Lean Increased Lean High Lean Body Below average Average Above average
Body Mass Body Mass Mass
Power Capacity
Low
Recovery Efficiency
Normal Recovery
Strength Profile
Medium
Water Loss
Above average
Wellbeing
By looking at select genes and understanding their impact on your daily life, we can help you pave
the path to wellness and vitality. Identifying everything from your metabolic and inflammatory
response and life longevity, to your bone density and tendency to get mosquito bites - by
uncovering your genetic predisposition for certain conditions, you can potentially prevent them from
manifesting in the future.
Wellbeing 20 of 84
Inflammatory Response
Normal Response
Life Longevity
Likely Average
Metabolic Response
Normal Response
Average Risk Elevated Risk Average Risk Moderate Risk Elevated Risk
Sleep Duration
Standard (7‑9 hours)
Sleep Movement
Average
Average More
Sleep Quality
Insomniac
Ancestry
Your DNA test offers you the powerful experience of discovering what makes you unique and
learning where you really come from. The places your ancestors called home are encoded in your
DNA. Ethnic groups historically come from the same geographic regions and draw from a local gene
pool. We analyse your DNA to determine your ancestral composition.
Ancestry 24 of 84
Chinese 33.78%
European 32.79%
Northwestern European 0%
Vietnamese 7.27%
African 0%
South Asian 0%
Skin
It’s difficult to predict how your skin will respond to ageing, but taking care of it based on what your
genes tell you will go a long way in preventing future skin damage. Understanding your unique skin
DNA profile helps to form the basis of your skin care routine - because not everyone’s skin is the
same.
Skin 26 of 84
Acne Risk
Keloid Scars Risk
Very High
Average
Glycation Risk
Skin Bruising Tendency
Low
Average Tendency
Low Average
Average Tendency Higher Tendency
Cellulite Formation
Skin Hydration Ability
Higher Tendency
Normal Skin Hydration Factor
Hyperpigmentation Risk
Low
Sunburn Risk
Low
Physical Traits
Learning about how your DNA influences your appearance and senses is a fun and innovative way
to understand the science behind physical and sensory traits including hair colour, smell sensitivity
and earwax type. Discover how these traits run in your family and get answers to why you’re the
only one of your siblings with a particular trait.
29 of 84 Physical Traits
Likely Normal Likely More Than Normal Likely Thinner Likely Thicker
Likely Normal Likely More Than Normal Likely Normal Likely Increased Likely High
Likely Brown Likely Green Likely Blue Likely Normal Likely More Than Normal
Likely Brown Likely Red Likely Black Likely Light Less Likely Thin Likely Thin
Waist Circumference
Likely Larger
Gender Traits
Whether you are an artist creating new artifacts, a scientist making new discoveries or a gambler
making reckless bets may be partly programmed into your genes. Those who have what's known as
the "thrill-seeking" gene are likely to be more apt to take risks - and those who don't, tend to be
more risk-averse. What will your genes tell you about your "thrill-seeking" tendency?
Gender Traits 32 of 84
Breast Size
Likely Average
Thrill-Seeking
Less Likely a Thrill-Seeker
Behavioural Traits
Discovering more about what makes you a unique human being is a combination of both your
genes (nature) and environment (nurture). Your genetics can affect your behaviour in different
situations - from your susceptibility towards alcohol, smoking and food addiction, to how charitable
you’re likely to be, as well as if you’re predisposed towards being more obsessive/compulsive than
others.
Behavioural Traits 34 of 84
Alcohol Addiction
Less Likely
Altruism
Less Likely
Food Addiction
Less Likely
Smoking Addiction
Less Likely
Personality Traits
If you’ve ever wondered about the links between your personality and your genes, wonder no more.
It’s here that you will learn about how your unique gene profile can offer a deeper look into the role
your DNA may play in how you think, feel, act, and react. Are you more extraverted and open than
others? Or do you tend to be more disciplined and organised? Your genes can tell you a lot about
the type of person you are.
Personality Traits 36 of 84
Agreeableness
Likely Competitive / Challenging
Conscientiousness
Likely Balanced
Extraversion
Likely Reserved / Reflective
Neuroticism
Likely Confident / Calm
Openness
Likely Pragmatic / Consistent
Success Traits
Your likelihood of success in life could be written in your DNA. There is mounting evidence to show
that the best predictor of your life’s outcome isn’t just linked to your environment (i.e. your upbringing
and social class) but to your genetic make-up, too. From your intelligence quotient and
entrepreneurship tendency, to how good you’re likely to be at mathemathical skills - there’s a host
of exciting information contained in the genes that make you, you.
Success Traits 38 of 84
Creativity
Normal
Educational Attainment
Normal
Dancing Ability
Normal
Normal Gifted
Musical Ability
Normal
Normal Gifted
Pollution
While air pollution is a major environmental concern that poses major health issues to the general
population, certain individuals are more genetically predisposed than others to get certain
respiratory conditions when exposed to certain airborne pollutants. Find out why prevention is
better than cure by knowing your genetic risk profile when it comes to the air you breathe.
Pollution 42 of 84
Pesticide Sensitivity
Normal Sensitivity
Common Health
Risks
Most people with an inherited common disease risk don’t know they may already have the
condition, as they don’t experience symptoms. If left undetected and untreated, these types of
conditions can lead to problems such as heart disease and type 2 diabetes. While most disease
cases are caused by a combination of environmental conditions like pollution, and lifestyle choices
like an unhealthy diet, being overweight, smoking and drinking, some are due to genetics.
Certain inherited conditions like heart disease and stroke are passed down through families and are
caused by a change (or mutation) in one or more of your genes. Insights into your genetic risk for
certain diseases can help you and your healthcare provider build a personalised health plan to
manage the onset of various conditions.
Common Health Risks 44 of 84
High Cholesterol
Average Risk
Hypertension
Average Risk
Obesity
Average Risk
Disease Risk
Genetic risks for diseases are often identified too late. Limited health budgets also mean testing is
usually only offered to people diagnosed with genetic diseases and their families - not healthy
individuals. Targeted sequencing focuses on specific regions of human exome, which contains over
85% of disease causing mutations known today. It is the most revealing part of your genome, and a
cost-effective and compelling approach for uncovering disease genes.
Circle Disease Risk allows you to understand how your genetics may impact your risk of developing
certain health conditions. Our reports provide you with information and tools that aid your
understanding of potential health risks, including potential risks of complex illness, how certain
conditions may be passed on from generation-to-generation, as well as how you can take
preventable measures now to avoid these diseases manifesting later in life.
Disease Risk 46 of 84
Opioid Addiction
Elevated Risk Allergies
Average Risk
Tooth Decay
Elevated Risk Age-Related Macular Degeneration
(AMD)
Average Risk
Average Risk Elevated Risk
Average Risk
Catecholaminergic Polymorphic
Asthma Ventricular Tachycardia (CPVT)
Average Risk Average Risk
Average Risk
Average Risk
Gallstone Disease
Deep Vein Thrombosis Average Risk
Average Risk
Gout
Major Depression Average Risk
Average Risk
Average Risk Elevated Risk Likely Normal Levels Likely Lower Levels
Average Risk Elevated Risk Average Risk Risk for Mild Elevated Risk
Symptoms
Psoriasis
Syndromic Hearing Loss
Average Risk
Average Risk
Hypertriglyceridemia
Average Risk
Ulcerative Colitis
Average Risk
Vitiligo
Average Risk
Alzheimer's Disease
Average Risk
Bipolar Disorder
Average Risk
Frontotemporal Dementia
Average Risk
Parkinson's Disease
Average Risk
Schizophrenia
Average Risk
Drug Response
From the moment medications enter your body, it’s actively working to process or metabolise them.
All drugs will eventually leave the body through a process called elimination - but the time they stay
active is often determined by genetic variations that change the way your drug-processing
enzymes work.
Limitations
This report provides information about how genes included in the Circle Drug Response Test affect your response to drugs. It combines
pharmacology (the science of drugs) and genomics (the study of genes) for the safe and effective use of medications and doses tailored
to your DNA. We recommend you share your results with your healthcare provider for further advice and to tailor your current or future
treatment plan.
55 of 84 Drug Response
Others
bupropion
SSRI
citalopram
escitalopram
sertraline
BZP
clobazam
diazepam
midazolam
SNRI
duloxetine
Stimulant
methylphenidate
MAOI
moclobemide
Opioid Antagonist
naloxone
naltrexone
Anticonvulsant
valproic acid1
Others
hydralazine5
Nitrate
isosorbide mononitrate5
DMARD
methotrexate2
Neuromuscular Blocker
rocuronium4
Triptan
sumatriptan6
Others
phenylephrine6
Others
phenylephrine4
COMT Inhibitor
entacapone
SU
glibenclamide
gliclazide
glimepiride
glipizide
Dopamine Precursor
levodopa3
Cancer Risk
Circle Cancer Risk determines whether or not you carry inherited genetic mutations that may
increase your risk of developing cancer. Having an early awareness of your genetic predisposition
towards certain cancers can monumentally affect the outcome of your health, by allowing you to
create a personalised plan designed to help prevent or detect cancer at an earlier and more
treatable stage. In fact, 5-10% of cancers are due to inherited genetic mutations. Most of the
inherited cancer conditions follow an autosomal dominant mode of inheritance. So, one person is
enough to pass on the cancer-causing mutation from one generation to another.
However, it’s important to note that while having a mutation may increase your risk of cancer, this
test is not a cancer diagnosis and does not mean you will necessarily develop the disease. For
example, most men have a 2% chance of getting colorectal cancer by the age of 70, while a man
with a genetic mutation in the MLH1 gene can have a 35% chance. The level of increased risk differs
from gene-to-gene and from cancer-to-cancer. This information can help your healthcare provider
give you actionable steps towards preventive and early screening measures.
This suggests that the laboratory did not find any specific pathogenic mutations the test was
designed to detect. However, other factors also influence your risk of developing cancer. A genetic
counsellor can help you understand how both genetic and non-genetic factors may influence your
risk of developing cancer.
This suggests that a genetic mutation associated with an increased cancer susceptibility was
detected in the genes tested. It is important to follow up with a doctor or a genetic counsellor, since
there may be preventive options that are effective in reducing cancer risk.
This suggests that a clinically significant mutation was detected in the genes tested - however, this
genetic mutation is not currently linked to an increased cancer risk in females. We do still
recommend following up with a doctor or a genetic counsellor to better understand your cancer
risk.
Limitations
This report provides information about your genetic predisposition to the specific types of cancer included in the Circle Cancer Risk Test
Report. Environmental and lifestyle factors also often play a large role in your risk for developing cancer. The information presented in the
Circle Cancer Risk Test Report is not intended as medical advice and should not be used for diagnosing, treating or preventing diseases.
Please consult with your healthcare provider for further advice before making any changes to your diet or lifestyle.
63 of 84 Cancer Risk
Bladder Cancer
No cancer-causing mutation was detected.
2 gene(s) tested
Brain Cancer
No cancer-causing mutation was detected.
16 gene(s) tested
Breast Cancer
No cancer-causing mutation was detected.
15 gene(s) tested
Carcinoid
No cancer-causing mutation was detected.
2 gene(s) tested
Chondrosarcoma
No cancer-causing mutation was detected.
4 gene(s) tested
Colorectal Cancer
No cancer-causing mutation was detected.
27 gene(s) tested
Esophageal Cancer
No cancer-causing mutation was detected.
1 gene(s) tested
Kidney Cancer
No cancer-causing mutation was detected.
8 gene(s) tested
Leukaemia
No cancer-causing mutation was detected.
23 gene(s) tested
Liver Cancer
No cancer-causing mutation was detected.
9 gene(s) tested
Lung Cancer
No cancer-causing mutation was detected.
3 gene(s) tested
Lymphoma
No cancer-causing mutation was detected.
12 gene(s) tested
Melanoma
No cancer-causing mutation was detected.
20 gene(s) tested
Meningioma
No cancer-causing mutation was detected.
7 gene(s) tested
Multiple Myeloma
No cancer-causing mutation was detected.
1 gene(s) tested
Neuroblastoma
No cancer-causing mutation was detected.
6 gene(s) tested
Neurofibroma
No cancer-causing mutation was detected.
1 gene(s) tested
Osteosarcoma
No cancer-causing mutation was detected.
4 gene(s) tested
Ovarian Cancer
No cancer-causing mutation was detected.
13 gene(s) tested
Pancreatic Cancer
No cancer-causing mutation was detected.
17 gene(s) tested
Paraganglioma
No cancer-causing mutation was detected.
10 gene(s) tested
Parathyroid Cancer
No cancer-causing mutation was detected.
1 gene(s) tested
Pheochromocytoma
No cancer-causing mutation was detected.
12 gene(s) tested
Pituitary Adenoma
No cancer-causing mutation was detected.
3 gene(s) tested
Retinoblastoma
No cancer-causing mutation was detected.
2 gene(s) tested
Rhabdomyosarcoma
No cancer-causing mutation was detected.
6 gene(s) tested
Stomach Cancer
No cancer-causing mutation was detected.
15 gene(s) tested
Thyroid Cancer
No cancer-causing mutation was detected.
9 gene(s) tested
Uterine Cancer
No cancer-causing mutation was detected.
10 gene(s) tested
Uveal Melanoma
No cancer-causing mutation was detected.
1 gene(s) tested
Wilms Tumour
No cancer-causing mutation was detected.
10 gene(s) tested
Family Planning
Circle Family Planning (carrier screening) can determine whether or not you or your partner carry
inherited genetic mutations that you might pass on to an unborn child. Knowing this information
before you get pregnant, or early in your pregnancy, can make a difference in your family’s well-
being.
Your DNA contains two copies of every gene — one inherited from your mother, and one from your
father. These genes pass along family characteristics like hair and eye color. They also sometimes
pass on inherited conditions.
Most people carry at least one pathogenic mutation in a gene included in our Family Planning
Screen. This usually only becomes an issue if both you and your partner have a pathogenic
mutation in one copy of the same gene. When this happens, even though neither of you have any
symptoms, there is a 1-in-4 chance for each pregnancy that your child will be affected by the
condition associated with the gene. With this information, your healthcare provider can give you
actionable steps you can take to prevent your child from having the condition.
Limitations
This report provides information about your genetic predisposition to the specific types of conditions included in the Circle Family Planning
Test Report. The information presented in the Circle Family Planning Test Report is not intended as medical advice and should not be used
for diagnosing, treating or preventing diseases. Please consult with your healthcare provider for further advice before making any
changes to your diet or lifestyle.
Family Planning 68 of 84
Achondrogenesis
Negative
Due to SLC26A2 Mutation
Achromatopsia
Negative
Due to ATF6 Mutation
Achromatopsia
Negative
Due to CNGA3 Mutation
Achromatopsia
Negative
Due to CNGB3 Mutation
Achromatopsia
Negative
Due to GNAT2 Mutation
Achromatopsia
Negative
Due to PDE6C Mutation
Achromatopsia
Negative
Due to PDE6H Mutation
Alkaptonuria
Negative
Due to HGD Mutation
Alpha-Mannosidosis
Negative
Due to MAN2B1 Mutation
Alpha-Sarcoglycanopathy
Negative
Due to SGCA Mutation
Andermann Syndrome
Negative
Due to SLC12A6 Mutation
Aspartylglycosaminuria
Negative
Due to AGA Mutation
Ataxia-Telangiectasia
Negative
Due to ATM Mutation
Bardet-Biedl Syndrome
Negative
Due to BBS1 Mutation
Bardet-Biedl Syndrome
Negative
Due to BBS10 Mutation
Biotinidase Deficiency
Negative
Due to BTD Mutation
Bloom Syndrome
Negative
Due to BLM Mutation
Canavan Disease
Negative
Due to ASPA Mutation
Cartilage-hair Hypoplasia
Negative
Due to RMRP Mutation
Choroideremia
Negative
Due to CHM Mutation
Citrullinemia
Negative
Due to ASS1 Mutation
Citrullinemia
Negative
Due to SLC25A13 Mutation
Cohen Syndrome
Negative
Due to VPS13B Mutation
Cystic Fibrosis
Negative
Due to CFTR Mutation
Cystinosis
Negative
Due to CTNS Mutation
Deafness
Negative
Due to PCDH15 Mutation
Diastrophic Dysplasia
Negative
Due to SLC26A2 Mutation
Dilated Cardiomyopathy
Negative
Due to FKTN Mutation
Factor XI Deficiency
Negative
Due to F11 Mutation
Familial Dysautonomia
Negative
Due to ELP1 Mutation
Fanconi Anemia
Negative
Due to FANCA Mutation
Fanconi Anemia
Negative
Due to FANCC Mutation
Fanconi Anemia
Negative
Due to FANCG Mutation
Galactosemia
Negative
Due to GALT Mutation
Gaucher Disease
Negative
Due to GBA Mutation
Glucose-6-phosphate Dehydrogenase
Deficiency Negative
Due to G6PD Mutation
Glutaric Acidemia
Negative
Due to GCDH Mutation
GRACILE Syndrome
Negative
Due to BCS1L Mutation
HELLP Syndrome
Negative
Due to HADHA Mutation
Hemophilia B
Negative
Due to F9 Mutation
Homocystinuria
Negative
Due to CBS Mutation
Hyperinsulinism
Negative
Due to ABCC8 Mutation
Hyperinsulinism
Negative
Due to HADH Mutation
Hyperinsulinism
Negative
Due to KCNJ11 Mutation
Isovaleric Acidemia
Negative
Due to IVD Mutation
Joubert Syndrome
Negative
Due to TMEM216 Mutation
Krabbe Disease
Negative
Due to GALC Mutation
LCHAD Deficiency
Negative
Due to HADHA Mutation
Metachromatic Leukodystrophy
Negative
Due to ARSA Mutation
Methylmalonic Acidemia
Negative
Due to MMAA Mutation
Methylmalonic Acidemia
Negative
Due to MMAB Mutation
Methylmalonic Acidemia
Negative
Due to MMUT Mutation
MTHFR Deficiency
Negative
Due to MTHFR Mutation
Mucolipidosis
Negative
Due to MCOLN1 Mutation
Mucopolysaccharidosis
Negative
Due to IDUA Mutation
Muscle-Eye-Brain Disease
Negative
Due to POMGNT1 Mutation
Muscular dystrophy-dystroglycanopathy
Negative
Due to FKTN Mutation
Nemaline Myopathy
Negative
Due to KLHL40 Mutation
Nemaline Myopathy
Negative
Due to NEB Mutation
Niemann-Pick Disease
Negative
Due to NPC1 Mutation
Niemann-Pick Disease
Negative
Due to SMPD1 Mutation
Northern Epilepsy
Negative
Due to CLN8 Mutation
Oculocutaneous Albinism
Negative
Due to TYR Mutation
Pendred Syndrome
Negative
Due to SLC26A4 Mutation
Phenylketonuria
Negative
Due to GCH1 Mutation
Phenylketonuria
Negative
Due to GCHFR Mutation
Phenylketonuria
Negative
Due to PAH Mutation
Phenylketonuria
Negative
Due to PCBD1 Mutation
Phenylketonuria
Negative
Due to PTS Mutation
Phenylketonuria
Negative
Due to QDPR Mutation
Pompe Disease
Negative
Due to GAA Mutation
Primary Hyperoxaluria
Negative
Due to AGXT Mutation
Primary Hyperoxaluria
Negative
Due to GRHPR Mutation
Primary Hyperoxaluria
Negative
Due to HOGA1 Mutation
Pseudocholinesterase Deficiency
Negative
Due to BCHE Mutation
Pycnodysostosis
Negative
Due to CTSK Mutation
Salla Disease
Negative
Due to SLC17A5 Mutation
Segawa Syndrome
Negative
Due to TH Mutation
Sjögren-Larsson Syndrome
Negative
Due to ALDH3A2 Mutation
Smith-Lemli-Opitz Syndrome
Negative
Due to DHCR7 Mutation
Sulfate Transporter-related
Osteochondrodysplasia Negative
Due to SLC26A2 Mutation
Tyrosinemia
Negative
Due to FAH Mutation
Usher Syndrome
Negative
Due to ADGRV1 Mutation
Usher Syndrome
Negative
Due to CDH23 Mutation
Usher Syndrome
Negative
Due to CIB2 Mutation
Usher Syndrome
Negative
Due to CLRN1 Mutation
Usher Syndrome
Negative
Due to MYO7A Mutation
Usher Syndrome
Negative
Due to PCDH15 Mutation
Usher Syndrome
Negative
Due to PDZD7 Mutation
Usher Syndrome
Negative
Due to USH1C Mutation
Usher Syndrome
Negative
Due to USH1G Mutation
Usher Syndrome
Negative
Due to USH2A Mutation
Usher Syndrome
Negative
Due to WHRN Mutation
Wilson Disease
Negative
Due to ATP7B Mutation