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Rare and Undiagnosed Conditions

Shortening the search for diagnostic answers

For families, genetic testing can confirm a rare disease diagnosis in a loved one with unexplained symptoms, helping to guide specialized medical care.

Understanding Rare and Undiagnosed Conditions

Living with unexplained symptoms of an undiagnosed rare disease can mean years of uncertainty for individuals and families looking for answers. Genetic testing can offer a diagnosis in up to half of people searching, bringing clarity and helping to guide medical care and individualized treatment options.

Tests like exome sequencing and chromosomal microarray analyze large areas of a person’s genetic blueprint. This helps find possible genetic causes of rare and undiagnosed conditions, giving a family and their medical team the most complete picture available.

Counter statistics

85%
of genetic conditions are caused by changes in the exome
25-30 million
estimated Americans have rare diseases* *NORD Rare Insights®, 2019
50%
Pioneering genetic diagnostics since 1999
Understand the Tests

Two Tests, One Goal – Finding Answers

Doctor Consulting with Patient During a Medical Appointment in Clinic Setting
Exome Sequencing
Analyzes active parts of all genes, which are more likely to be related to rare genetic disease

Exome sequencing studies regions within our ~20,000 genes that make proteins our bodies need and use. 85% of known genetic conditions are linked to changes in these regions. Exome sequencing can help identify genetic changes that may explain a rare or undiagnosed genetic condition in a family.

  • Best for: Unexplained conditions, multi-system symptoms, previous panel tests negative
  • Sample: Blood or saliva; often includes parental samples
  • Turnaround: 8–12 weeks
  • Finds: Point mutations, small insertions/deletions in coding genes
Doctor reviews teenage patient’s test results
Chromosomal Microarray (CMA)
Analyzes chromosomes for missing or extra pieces of material that may explain rare genetic disease

CMA looks for gains or losses of genetic material in all our chromosomes. These chromosome imbalances may not be found with sequencing tests, so CMA works alongside exome sequencing. CMA can explain symptoms linked to rare or undiagnosed conditions and offer a diagnosis to a family.

  • Best for: Developmental delay, intellectual disability, autism, birth defects
  • Sample: Blood or saliva; parental samples optional
  • Turnaround: 2–3 weeks
  • Finds: Chromosomal deletions, duplications, gains, and losses
AM I AT RISK?

When to Consider Genetic Testing

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Previous tests found no cause
Prior genetic and medical tests were inconclusive, and a genetic origin is still suspected.
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No targeted test exists
There is no specific targeted genetic test available for the suspected condition.
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Multiple genes may be involved
The condition may be caused by changes in more than one gene — genomic testing evaluates them all at once.
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Symptoms span multiple systems
Symptoms affect multiple organ systems or don’t clearly fit a single known diagnosis.
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Unexplained childhood condition
A child has developmental delay, intellectual disability, autism, or multiple congenital anomalies without a known cause.
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Confirm or rule out a diagnosis
Your doctor wants to confirm a clinical diagnosis or rule out genetic conditions before pursuing further invasive testing.
Things to Consider

What to Know Before Testing

Counseling session

Some Genetic Conditions Remain Unexplained

Even with advanced genetic testing, a diagnosis is not always possible. Some genetic causes of disease are not fully understood or cannot be confirmed with current testing. As science and technology progress, your healthcare provider may recommend updated testing in the future.
Cheerful senior doctor meeting with young African patient in clinic

Unexpected Genetic Risks May Be Learned

Exome sequencing studies many genes at once – so it may find mutations in genes unrelated to the reason for testing, called Secondary Findings. For example, an inherited risk for breast cancer may be found when the reason for testing was to better understand a cause for having seizures. Before testing starts, you can choose if you want to receive all genetic risk information or focus only on the medical concern at hand.
Multi Generation Family Sitting On Sofa With Newborn Baby

Testing Family Members Makes A Difference

Including samples from biological parents, when possible, can greatly improve the chance that exome sequencing will offer a genetic diagnosis or explanation. Testing can still be done without parental samples, but fewer diagnostic answers may be possible. Sometimes, exome sequencing results may also have implications for biological relatives.
Why It Matters

What Genetic Testing Can Change

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For You or Your Child
How results may shape your care plan
  • Confirm or clarify a diagnosis or underlying genetic cause of rare disease
  • Support earlier screening, monitoring, and information about what to expect over time
  • Guide more individualized medical care and future treatment decisions based on genetic findings
  • Help avoid unnecessary or invasive testing procedures
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For Your Family
Possible impacts to close family members
  • Knowing whether a genetic change is a mutation, inherited, or brand-new in a family can help clarify risks for the person being tested and their biological relatives
  • Sharing test results could prompt family members to consider genetic testing and take early proactive steps
  • Ambry’s Patient for Life program monitors test results over time — if science advances, your healthcare provider will be notified
Understanding Results

What Test Results Actually Mean

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Negative

No mutations linked to genetic disease were found in any of the genes tested.

A negative genetic test result can be reassuring, but it does not rule out a genetic cause for disease. Updated testing in the future may be helpful as science and technology advance. Ambry’s Patient for Life programs supports this. For now, discuss next steps with your healthcare provider.

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Positive

A mutation (or mutations) linked to a genetic disease was found, related to the reason for testing.

A positive genetic test result may help confirm a diagnosis and guide specialized treatment, medical care, and monitoring recommendations based on the gene and mutation involved.

Depending on the inheritance pattern, biological family members may also carry the same mutation(s). Genetic testing may be appropriate for them to consider.

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VUS

A genetic change was found, but it is currently unclear whether it causes the medical issue of concern.

VUS = Variant of Uncertain Significance. Until more is understood about the science, medical care and treatment decisions should be based on a person’s symptoms, personal medical history, and family history.

These test results can change over time as scientific knowledge grows. Ambry’s Patient for Life program monitors test results over time — if science advances, your healthcare provider will be notified.

Tests and Gene Information

Find information about our exome and general genetics tests here. Click the arrows to expand the gene list to see all of genes that are included on each test.
ExomeNext®
Whole Exome
(includes Patient Only Chart, Proband, and Relative orders)
Whole Exome
~ 20,000 GENES SEE COVERAGE DETAILS
ExomeReveal™
Whole Exome
Whole Exome
~ 20,000 GENES SEE COVERAGE DETAILS
GenomeNext™
Whole Genome
Whole Genome
Whole Genome
GenomeReveal™
Whole Genome
Whole Genome
Whole Genome
SNP Array
Whole Genome
A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns.
Whole Genome
Whole Genome

Resources

Everything you need to understand your results and take next steps.
Patient Guides
Rare Disease Patient Guide
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Useful Organizations to Know

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