Rare and Undiagnosed Conditions

Genomic testing can find answers for up to half of all people with an undiagnosed disease

What is Clinical Genomic Testing?

There are two types of genomic testing, Chromosomal Microarray (CMA) and Exome Sequencing. CMA is a test designed to look for extra or missing genetic information in your genome. For many people, these imbalances can be the cause of an existing medical condition.

Your exome is the part of your genome that makes proteins, and 85% of genetic conditions are caused by changes in the exome. Exome sequencing is a test designed to look for genetic changes (mutations) in your exome that may be the cause of an existing medical condition. Some genetic tests just look for common mutations, while others may look only for changes in common genes. In contrast, exome sequencing looks at all the genes and all the mutations in the exome, making it a more comprehensive test.

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85% of genetic conditions are caused by changes in the exome

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An estimated 25-30 million Americans have rare diseases*

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Most rare diseases are genetic or have a genetic component*

*NORD Rare Insights® Fact Sheet, 2019

Why is Genomic Testing Important?

By knowing the underlying genetic cause of a condition, your doctors may be able to treat and manage your health better. They may also be better able to understand if your medical condition may also affect other family members.

How Genetic Testing May Help

impact of genetic testing

Your healthcare provider can give you better information about what to expect based on your genetic test results, or even provide answers for your medical concern.

impact of genetic testing

The extra or missing genetic information that CMA may reveal could be the cause of your current medical condition. Identifying the cause can help your healthcare provider develop a treatment and/or action plan.

impact of genetic testing

Discussing the possibilities revealed in your genetic test results may help you avoid other, potentially invasive, testing.

How Genetic Testing May Help Your Family

THE BENEFITS OF EXOME SEQUENCING AND CMA FOR FAMILIES

Comprehensive genomic testing helps sort through all your family members’ genetic changes and identifies those that are common in your family versus those that may be causing your particular medical condition. If multiple people in your family have the same medical condition, family-based genomic testing could help see which of the same genetic changes each family member has.

Testing is possible without other family members, but it does lower the chance of finding an answer. To test family members, we just need a blood or saliva sample from them.

Genomic testing is beneficial as it is a quicker and more cost-effective diagnosis, studying multiple genes at once, and removes uncertainty related to having an undiagnosed disease.
exome pedigree

Am I a Candidate for Genetic Testing?

YOUR DOCTOR MAY CONSIDER EXOME SEQUENCING OR CMA TO IDENTIFY THE UNDERLYING GENETIC CAUSE OF YOUR MEDICAL CONCERNS WHEN:

Previous genetic and medical tests have not determined a cause, and your doctor suspects an underlying genetic cause

There is no specific genetic testing available for your possible genetic condition

Your medical concerns may be caused by changes in more than one gene – genomic testing is a way to test for them all at once

How is Exome Sequencing or CMA Performed?

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Samples sent from you (and family members in Exome Sequencing*) to the lab

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Lab performs testing

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Exome reports available in 8-12 weeks**
CMA reports available in 2-3 weeks

genetic testing for neurological disorder
A VISIT TO YOUR HEALTHCARE PROVIDER IS THE FIRST PLACE TO START

*Your healthcare provider may identify other reasons why you could consider genetic testing.
**Family members” refers to blood relatives, such as brothers / sisters / parents / grandparents / aunts / uncles / cousins

What Test Results Can I Expect? And What Do I Do Once I Have Them?

POSITIVE, NEGATIVE, OR A VARIANT OF UNKNOWN SIGNIFICANCE (VUS)

Results from your genetic tests will fall into one of three categories:

A mutation was found that is known to be associated with your medical concerns

Genetic testing for the specific mutation may be considered for family members

The underlying genetic cause of your medical concerns has not been found

Studying your genomic data again may be helpful in the future

A DNA change(s) was found, but it is not clear if this is the cause of your medical concerns

Studying your genomic data in the future may provide useful information

SECONDARY FINDING RESULTS (FOR EXOME SEQUENCING ONLY)
A mutation was found in a gene that is unrelated to your medical concerns, but may affect your health in the future

Genetic testing for the specific gene mutation may be considered for family members

It will be important to discuss these findings with your doctor

No mutations were identified among a group of common disease genes unrelated to your medical concerns

There may still be genetic changes that may affect your future health, however they were not identified through this test

things to consider about exome testing

Things to Consider

Limitations

In some cases, results may be negative. Although these tests are designed to look at the entire exome/genome, the cause of your medical concerns may be in an area of the exome/genome that is not well understood or cannot be identified.

If your results are negative, your healthcare provider may choose to do additional genetic testing now or in the future. Negative results could also suggest that the medical issues you are concerned about are not inherited.

SECONDARY FINDINGS FOR EXOME SEQUENCING

Because this test looks at all your genes at once, medically important mutations may be found that have nothing to do with your current medical concerns. If this happens, you could potentially learn new information about your health, for which there may be recommended medical follow-up.

You can choose ahead of time if you wish to learn about this information.

TESTING FOR FAMILY MEMBERS

Genomic testing may find a genetic change in you that may also be found in your family. It is important to consider sharing your results; however, some family members may not want to know if they are at risk for developing a genetic condition.

Ideally, your family members should meet with their doctor or a genetic counselor to discuss their options for being tested. Genomic testing may also find unexpected information about family relationships. You can discuss these possibilities with your doctor/genetic counselor.

Tests and Gene Information

Click on the disease or category below to see all genes that appear on the test.

  • Exome & Microarray

    • ExomeNext-Proband™

      Gene List

      Whole Exome

    • ExomeNext-Proband plus mtDNA

      Gene List

      Whole Exome

    • ExomeNext-Duo™

      Gene List

      Whole Exome

    • ExomeNext-Duo plus mtDNA

      Gene List

      Whole Exome

    • ExomeNext-Trio™

      Gene List

      Whole Exome

    • ExomeNext-Trio plus mtDNA

      Gene List

      Whole Exome

    • ExomeNext-Rapid®

      Gene List

      Whole Exome

    • ExomeNext-Select

      Gene List

      500

    • SNP Array

      A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns.

      Gene List

      Whole Genome

  • Endocrinology

    • Hereditary leiomyomatosis and renal cell carcinoma

      Gene List

      FH

    • MODY panel

      Gene List

      GCK, HNF1A, HNF1B, HNF4A, PDX1

    • Multiple endocrine neoplasia type 1

      Gene List

      MEN1

    • Multiple endocrine neoplasia type 2 and familial medullary thyroid cancer

      Gene List

      RET

    • PGLNext®

      Testing for hereditary endocrine cancers, including genes linked to a higher chance to develop rare tumors known as paragangliomoas and/or pheochromocytomas

      Gene List

      EGLN1, FH, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

    • von Hippel-Lindau disease

      Gene List

      VHL

  • Gastroenterology

    • Cystic fibrosis

      Gene List

      CFTR

    • RET-related Hirschsprung disease

      Gene List

      RET

    • Juvenile polyposis syndrome

      Gene List

      BMPR1A, SMAD4

    • Pancreatitis Panel

      Gene List

      CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1

    • PancNext® plus Pancreatitis

      Testing for hereditary pancreatic cancer, including genes linked to a higher chance to develop pancreatic and/or other cancers

      Gene List

      APC, ATM, BRCA1, BRCA2, CASR, CDKN2A, CFTR, CPA1, CTRC, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, PRSS1, SPINK1, STK11, TP53

    • Peutz-Jeghers syndrome

      Gene List

      STK11

  • Multiple Congenital Anomalies

    • SNP Array

      A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns.

      Gene List

      Whole Genome

    • Noonan syndrome panel

      Gene List

      BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, SPRED1

  • Hematology

    • DBANext™

      Gene List

      RPL11, RPL19, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7

    • DCNext

      Gene List

      DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53

    • Shwachman-Diamond syndrome

      Gene List

      SBDS

  • Pulmonology

    • Congenital central hypoventilation syndrome

      Gene List

      PHOX2B

    • Cystic fibrosis

      Gene List

      CFTR

    • PCDNext®

      A genetic test that identifies primary ciliary dyskinesia, a disorder that causes defects in the action of cilia lining the respiratory tract.

      Gene List

      ARMC4, CCDC103, CCDC114, CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, LRRC6, NME8, OFD1, RPGR, RSPH4A, RSPH9, SPAG1

    • Surfactant Dysfunction Panel

      Gene List

      ABCA3, SFTPB, SFTPC

    • Telomere-related pulmonary fibrosis

      Gene List

      TERC, TERT

  • Vascular

    • HHTNext®

      Gene List

      ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4

    • TAADNext®

      A next generation sequencing panel that analyzes 35 genes associated with thoracic aortic aneurysms and dissections, Marfan syndrome and related disorders that often contribute to sudden cardiac death. The test can confirm a diagnosis and aid in patient management and treatment options.

      Gene List

      ACTA2, BGN, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FKBP14, FLNA, FOXE3, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469

  • Nephrology

    • NephrolithiasisNext

      NephrolithiasisNext is a comprehensive panel for patients with symptoms of nephrolithiasis and nephrocalcinosis.

      Gene List

      AGXT, ALPL, APRT, ATP6V0A4, ATP6V1B1, BSND, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GRHPR, HOGA1, HPRT1, KCNJ1, MOCOS, OCRL, PRPS1, SLC12A1, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, UMOD, XDH

Patient Guides

Patient Guides for Download

Clinical Genomics  English | Spanish
rare disease links

Useful Organizations to Know

Global Genes

National Organization For Rare Disorders

Genetic Information Nondiscrimination Act

Want to Know More About Genetic Testing?

Ambry’s current menu of genetic tests is focused in four categories of genetic disease: Hereditary Cancer, Heart Conditions, Hereditary Neurological Disorders, and Other Rare Conditions. If the condition you are concerned about falls into one of these categories, click on the appropriate button to learn more.

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Hereditary Cancer
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Heart Conditions
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Neurological Disorders
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Rare Conditions
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Reproductive Health

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