If someone in your family already has been tested and a variant has been found, in most cases, we only need to look for that variant, which is what is done with familial known variant testing. Full gene sequencing, next generation sequencing panels, and genome testing are performed when specific pathogenic variants have not been identified in a family.
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General FAQs
The accuracy and turnaround time of the testing is the same between a blood specimen and a buccal swab or saliva specimen. However, since the amount and quality of DNA that can be obtained from buccal swab or saliva sample can differ, they are only accepted for our familial known variant testing.
The LMM accepts any brand of buccal swab kit but will only accept Oragene® DNA kits for saliva samples. If you have any questions regarding kit brands or would like to request a cheek brush or saliva kit, please email us or call us at 617-768-8500.
No. The laboratory generally obtains enough DNA from one specimen of 7ml of blood to complete several tests. Please call for specifics.
We would like at least 1–2cc of whole blood in a K2EDTA or K3EDTA (purple top tube) to perform any test. If testing is for a familial known variant(s), a buccal swab can be used.
We cannot accept cultured/direct amniotic fluid or CVS specimens. The laboratory does not offer maternal cell contamination (MCC) studies; therefore, we can only accept DNA derived from prenatal specimens (amnio, CVS, cord blood) if MCC has previously been run and results are provided with the specimen at the time of submission. The laboratory must be contacted prior to sending any DNA derived from prenatal specimens.
Yes. We can accept isolated DNA for all tests if extracted in a CLIA laboratory (please provide CLIA or NY State certificate number). Please see sample requirements for specifics.
You can order testing by a reflexive order or concurrently on the requisition form. If you choose to have the test run in a reflexive order, please indicate the order (i.e., 1, 2, 3…) in which you would like testing to proceed on the requisition form, next to the respective gene/test. This order communicates that you wish only to run testing, in the numerical order provided, until a positive result has been found. If you would like multiple tests to be run at the same time, please mark the appropriate check box next to the test with an “X.”
An additional test can be added on to a sample we previously received by submitting a written request for the new test to be performed. Please reference the LMM Accession Number (PM number), the patient's name and his/her date of birth. Unless otherwise indicated, payment will be processed in the same manner as the original test request. This request can be faxed at 617-768-8513 or email us at the Laboratory for Molecular Medicine.
If enough DNA remains from the original testing, an additional specimen is not required. Because the original amount of DNA received depends on several factors, please contact us at 617-768-8500 or LMM@partners.org to determine if a second sample would be required.
Formalin fixation causes degradation of DNA. Although testing can often be successfully performed on biopsy material that undergoes brief fixation, autopsy specimens are fixed for much longer periods of time causing too much degradation to the DNA. Please refer to our post-mortem specimen requirements for additional information.
Massachusetts state law requires genetic tests to be ordered by health care providers, and the results of those tests can only be returned to the ordering provider, unless we receive permission from the health care provider to release the results directly to the patient. Genetic testing is usually performed as a tool to help the physician make a diagnosis or to help a physician manage a patient's health care. The results of genetic testing may lead to additional testing, and therefore, it is best for the physician to receive the results so that an appropriate plan for care of the patient can be determined. In addition, the results of genetic testing can sometimes be complicated and difficult to understand. In most cases, it is best to report the results to a health care professional, who has both a relationship with and the time to explain such results to the patient or patient's parents. However, once the results of testing have been discussed with the patient, through a health care provider, a copy of the report may be provided to the patient or guardian directly.
If there are medical indications for expediting a test, please let us know and we will do our best to get a result out as quickly as possible. The most common indications for expediting a test in the lab are a scheduled or necessary procedure (e.g., surgery, bone marrow transplant) and testing on a pregnancy or family member of a pregnant woman.
No, the LMM is not able to bill insurance companies. We can either bill the referring institution or accept personal payment. If a patient plans to pay directly, payment must be received prior to the start of testing.
This depends on your particular plan and whether your deductible has been met. Facts you can give your insurance company about the test itself and the LMM are as follows:
- The CPT codes, a series of several 5-digit numbers that, taken together, describe the test procedure for analyzing any gene. The CPT codes differ for each test. Please go to the Price List and CPT Codes page to find the CPT codes listed by test
- If the CPT codes are accepted, note that some codes have multipliers such as "x 5." This number varies depending on how many genes are analyzed in the test panel. Ask how many times a code can be used per date of service. Explain that ONE test does, indeed, call for the full number of codes and multipliers stated
- Make sure the insurance company covers those CPT codes for the diagnosis or symptoms you or your child has. Your doctor may need to provide a letter of medical necessity. The symptoms or reasons for needing the test may be described with code numbers called ICD codes
Genome Sequencing FAQs
One blood sample collected in a lavender top tube is the preferred specimen. The LMM can provide blood tube kits. In situations where blood specimens are inappropriate or unavailable, other specimens may be accepted. Please contact the LMM in advance to discuss alternative specimen types.
Current turn-around time for reporting genome sequencing is anticipated to be approximately 12-16 weeks but may vary depending upon the complexity of the case and the volume of tests within the laboratory. Please contact the LMM for current turn-around times.
Specific types of genetic variation, such as triplet repeat expansions, translocations, copy number events, and variants in highly homologous regions, are currently not reliably detected by genome sequencing. Because exome sequencing only covers the coding regions of the genome, any genetic changes residing outside of the targeted region will not be detected. Furthermore, not all coding regions are sufficiently covered and variants in regions of low coverage may not be reliably detected. While genome sequencing adequately covers about 95% of the genome, there are certain regions for which the assay may not sufficiently generate sequence information. Gene-level coverage information for both tests is available on our website and details regarding the coverage of genes associated with a specific indication can be determined upon request.
Please contact the LMM for information on average gene coverage/depth for genome sequencing. Coverage metrics were calculated using exons plus or minus two bp of intronic sequence at less than or equal to 15 times for genome sequencing.
When requested, the LMM will provide raw sequence data to the ordering physician in the form of FASTQ, BAM, or VCF files with the understanding that the data will be interpreted by a trained professional and secondary confirmation of variants will be performed as appropriate. This data is intended for use in the clinical care of the patient only; use of this data for research purposes requires patient consent. VCFs will be delivered via secure file transfer and are available free of charge. FASTQ and BAM files will be provided on an encrypted hard drive (additional fees apply).
Our knowledge of human genetic variation is rapidly evolving, and we recommend periodic reinterpretation of genomic data. Upon request, reinterpretation of reported variants will be conducted free of charge and will be shared automatically to users of our GeneInsight Clinic application. Reanalysis of the entire exome or genome for the primary indication will be conducted free of charge one time after a year of the initial report date. Reanalysis of the entire exome or genome for the primary indication or a new indication may require an additional charge.
Diagnostic Genome FAQs
Testing is currently recommended for patients with a suspected genetic disorder in whom traditional genetic testing has not yielded a result. Genome sequencing may also be considered as a first-line testing strategy for conditions with a high degree of genetic heterogeneity for which panel-based testing is either limited or unavailable. For additional guidance in ordering genome sequencing, please contact the LMM.
We do offer the expanded genomic screening tests to individuals without a primary medical indication. However, this test must be ordered via a physician, and we recommend that individuals seeking this testing consult with a genetic counselor before ordering the test.
Please see our LMM Tests page for additional information.
Current pricing for diagnostic genome sequencing can be found in our pricing and CPT codes section.
Please contact the LMM for all other pricing requests.
The diagnostic genome report will contain an overall result based upon the individual’s presenting symptoms, as well as in-depth information on plausible genetic causes of disease with phenotype-driven interpretation. The analysis approach for each case is clearly outlined and coverage statistics for genes known to be associated with the patient’s indication for testing will be provided. Additional coverage statistics will also be provided upon request.
Patients have the option to receive additional results that may be unrelated to the indication for testing but may be of potential medical value. This service includes analysis of variants in clinically actionable genes reviewed and suggested for return by the American College of Molecular Genetics and Genomics (ACMG). Please contact the LMM for more details.
Genomic Screening FAQs
Genomic screening tests is for individuals over 18 years of age who are interested in learning more about their genomic information to identify related health, reproductive and/or pharmacogenomic risks. This test must be ordered via a physician, and we recommend that individuals seeking this testing consult with a genetic counselor before ordering the test.
Please contact the LMM for pricing requests.
The genomic screening test report will include information on pathogenic and likely pathogenic variants in medically actional genes as reviewed and suggested by the ACMG with the option to include pharmacogenomic (PGx) results. The expanded genomic screening test will include information on pathogenic and likely pathogenic variants in >3,500 genes with strong or definitive disease associations, including carrier status variant in those same genes, as well as risk alleles and PGx results. Additional coverage statistics can be provided upon request.
Certifications and licenses FAQs
No. Like many laboratories within hospitals, we are CLIA-accredited through The Joint Commission.
No. Our tests are developed and validated in-house and regulated by both CLIA and The Joint Commission. The FDA has determined that such clearance or approval is not necessary.
MD State License #1200
PA State License # 033982
NY State PFI: 9666
Yes, in addition to the test requisition form, an informed test consent must also be reviewed with the ordering provider and signed by the patient.
Polygenic Risk Scores (PRS) FAQs
Your genes contain the instructions that tell our bodies how to grow and function. These instructions are referred to as your DNA. Everyone has thousands of differences in their DNA that makes them unique.
A polygenic score combines many differences across thousands of genes into a single number. This number captures part of a person’s genetic risk of developing a health condition. Genetic risk can be used together with other known risk factors such as high blood pressure and family history to predict the risk of developing certain health conditions.
Knowing your polygenic score can be helpful in preventing disease starting at an early age.
This is not a diagnostic test. However, your scores can give information about your genetic risk of developing a particular condition compared to the average person. It does not determine who will develop the disease and who will not. You may already have one of the conditions assessed. You may or may not develop the conditions assessed regardless of your scores.
This polygenic score only provides an estimate of your genetic risk. There are many other factors that could affect your overall risk of developing cardiovascular disease, such as your diet, physical activity, and whether or not you smoke. These factors are not included in this score. Even if your polygenic score suggests a high genetic risk, there are steps you can take to lower your overall risk for cardiovascular disease.
The American Heart Association provides recommendations for improving and maintaining cardiovascular health on their website. You and your doctor can consider these together.
These results estimate polygenic risk of one or more of the following conditions (depending on the test your provider ordered):
- Atrial fibrillation
- Coronary artery disease
- Diabetes mellitus, type 2
- Elevated lipoprotein(a)
- Hypercholesterolemia
- Hypertension
- Thoracic aortic aneurysm
- Venous thromboembolism
This polygenic risk test does not identify all possible genetic causes of the conditions assessed above. You may have other genetic risk factors that are not captured by this test. If you or your doctor are concerned about a specific genetic condition, there may be different genetic tests more appropriate for you and your family.
A percentile helps you see how your risk compares to other people. We use percentiles to group individuals into categories of risk as shown below.
Conditions with available data
Conditions with available data include atrial fibrillation, coronary artery disease, diabetes mellitus, type 2, elevated lipoprotein(a), hypercholesterolemia, and hypertension.
| Percentile range | Risk category |
|---|---|
| 91st – 100th | High |
| 76th – 90th | Above average |
| 26th – 75th | Average |
| 0 – 25th | Below average |
Conditions with less available data
Conditions with less available data include thoracic aortic aneurysm and venous thromboembolism.
| Percentile range | Risk category |
|---|---|
| 81st – 100th | High |
| 21st – 80th | Average |
| 0 – 20th | Below average |
Your genes do not change but new tools to estimate genetic risk could become available. The estimate of your polygenic risk could change. These results were generated using published polygenic score data available up to May 2024.
These scores work best for people most similar to those represented in genetic studies. Most participants in genetic studies to date are genetically similar to populations from Europe. This means that these scores are currently more predictive in these individuals. Scientists are actively working on improving polygenic scores for all populations by recruiting more diverse participants to genetics research.
