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.
85% of genetic conditions are caused by changes in the exome
An estimated 25-30 million Americans have rare diseases*
Most rare diseases are genetic or have a genetic component*
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.
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.
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.
Discussing the possibilities revealed in your genetic test results may help you avoid other, potentially invasive, testing.
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.
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
Samples sent from you (and family members in Exome Sequencing*) to the lab
Lab performs testing
Exome reports available in 8-12 weeks**
CMA reports available in 2-3 weeks
*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
Results from your genetic tests will fall into one of three categories:
Genetic testing for the specific mutation may be considered for family members
Studying your genomic data again may be helpful in the future
Studying your genomic data in the future may provide useful information
Genetic testing for the specific gene mutation may be considered for family members
It will be important to discuss these findings with your doctor
There may still be genetic changes that may affect your future health, however they were not identified through this test
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.
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.
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.
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. By clicking on each gene, you can find more information that would be important for a person who tests positive for a mutation in that gene. These Understanding Your Results pages are included with positive test reports from Ambry.
Whole Exome |
Whole Exome |
Whole Exome |
Whole Exome |
Whole Exome |
Whole Exome |
Whole Exome |
A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns.
Whole Genome |
GCK |
HNF1A |
HNF1B |
HNF4A |
PDX1 |
A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns.
Whole Genome |
BRAF |
CBL |
HRAS |
KRAS |
LZTR1 |
MAP2K1 |
MAP2K2 |
NF1 |
NRAS |
PPP1CB |
PTPN11 |
RAF1 |
RASA1 |
RIT1 |
SHOC2 |
SOS1 |
SOS2 |
SPRED1 |
RPL11 |
RPL19 |
RPL26 |
RPL35A |
RPL5 |
RPS10 |
RPS17 |
RPS19 |
RPS24 |
RPS26 |
RPS7 |
DKC1 |
NHP2 |
NOP10 |
TERC |
TERT |
TINF2 |
WRAP53 |
SBDS |
A genetic test that identifies primary ciliary dyskinesia, a disorder that causes defects in the action of cilia lining the respiratory tract.
ARMC4 |
CCDC103 |
CCDC114 |
CCDC39 |
CCDC40 |
CFTR |
DNAAF1 |
DNAAF2 |
DNAAF3 |
DNAAF5 |
DNAH11 |
DNAH5 |
DNAI1 |
DNAI2 |
LRRC6 |
NME8 |
OFD1 |
RPGR |
RSPH4A |
RSPH9 |
SPAG1 |
ABCA3 |
SFTPB |
SFTPC |
TERC |
TERT |
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.
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 |
NephrolithiasisNext is a comprehensive panel for patients with symptoms of nephrolithiasis and nephrocalcinosis.
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 |
Click on the disease or category below to see all genes that appear on the test.
Gene List
Whole Exome
Gene List
Whole Exome
Gene List
Whole Exome
Gene List
Whole Exome
Gene List
Whole Exome
Gene List
Whole Exome
Gene List
Whole Exome
Gene List
500
A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns.
Gene List
Whole Genome
Gene List
FH
Gene List
GCK, HNF1A, HNF1B, HNF4A, PDX1
Gene List
MEN1
Gene List
RET
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
Gene List
VHL
Gene List
CFTR
Gene List
RET
Gene List
BMPR1A, SMAD4
Gene List
CASR, CFTR, CPA1, CTRC, PRSS1, SPINK1
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
Gene List
STK11
A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns.
Gene List
Whole Genome
Gene List
BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, SPRED1
Gene List
RPL11, RPL19, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7
Gene List
DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53
Gene List
SBDS
Gene List
PHOX2B
Gene List
CFTR
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
Gene List
ABCA3, SFTPB, SFTPC
Gene List
TERC, TERT
Gene List
ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4
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
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
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.