Sample types and specimen requirements

For all specimens being sent to us, we require label sample and completed requisition form with at least two unique patient identifiers and a signed consent form. Incomplete or missing paperwork may delay the start of testing.

Diagnostic, presymptomatic, and carrier testing specimens

For all diagnostic and presymptomatic full gene or panel testing, sample requirements are either:

• 4-8 ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
• 10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration). If providing DNA, please provide name and CLIA

  of lab performing blood extraction

For familial known variant and carrier testing, sample requirements are either:

• 4-8 ml of whole blood (3–5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA)
• 10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration). If providing DNA, please provide name and CLIA

  of lab performing blood extraction

A saliva or buccal swab sample. Please contact the lab at 617-768-8500 or lmm@partners.org for collection kits.

Post-mortem/autopsy testing specimens

The LMM can offer testing on some post-mortem/autopsy specimens. Please contact the lab prior to sending any post-mortem or autopsy specimen.

For all diagnostic, presymptomatic, and carrier testing sample options are:

• Blood

  • Please ship frozen specimens on dry ice (thawing of previously frozen blood will greatly increase the likelihood of test failure)
  • Preferred tube types include lavender (K2EDTA or K3EDTA), pink (K2EDTA), and yellow top
  • We also can attempt testing on gray, tan, and white top blood tubes

Important: Blood collection tubes containing clot activators or coagulants are not suitable for DNA testing. Samples shipped in these tubes will not be accepted. For specific questions about other acceptable sample types, please contact the lab.

Diagnostic genome sequencing and genomic screening

The LMM can offer testing on some post-mortem/autopsy specimens. Please contact the lab prior to sending any post-mortem or autopsy specimen.

For all diagnostic, presymptomatic, and carrier testing sample options are:

• Blood (preferred): 4-8ml of whole blood collected in a lavender (K2EDTA or K3EDTA)) or pink (K2EDTA) tube
• DNA (please send only if blood is not available, and provide origin of sample): 5-10 µg extracted DNA at a concentration of 50 ng/µl in Tris-EDTA (TE) buffer with OD260/280 between 1.8-2.0
  • If providing DNA, please provide name and CLIA # of lab performing blood extraction
    Important: Do not send Formalin-Fixed Autopsy Tissue (lengthy formalin fixation typical of autopsies destroys the DNA). For more specific questions of other types of tissue, please contact the lab at 617-768-8500 or lmm@partners.org.

Shipping Information

The laboratory accepts samples Monday through Friday from 9:00 a.m. to 5:00 p.m ET. We do not accept samples on Saturdays, Sundays, or federal holidays. For blood samples drawn on Fridays, please keep samples refrigerated and ship on the next business day. Labeled samples should be sent overnight at room temperature and accompanied by a completed requisition form with signed consent form.

Please ship samples to the following address:

Laboratory for Molecular MedicineAttention: Clinical Laboratory65 Landsdowne StreetCambridge, MA 02139

Please follow specific regulations set, depending upon the courier service utilized.

Can specimens be shipped by regular mail?

Cheek buccal swabs and saliva specimens can be sent through regular postal mail using the return envelope addressed to the LMM that is included with the kit. All blood, DNA, prenatal, and other specimens should not be shipped using regular postal mail and should be shipped by an overnight delivery service.

Do you pay for shipping?

No, the referring institution or send-out lab is responsible for coordinating and paying for the shipment of samples. The LMM will cover return shipping for specimen collection kits (buccal swab or saliva) sent directly to patients.

For questions regarding shipping of samples, please phone the lab at 617-768-8500.

Payment Information

The LMM offers several billing options for our clients and their patients; however, we do not bill insurance companies and are unable to begin testing without accurate billing information. Please refer to the below options:

Institutional billing: The LMM will bill the referring institution or an alternate facility

Pre-payment/patient pay: For direct patient billing, payment must be received before testing can begin. We accept checks (payable to Mass General Brigham Personalized Medicine), credit cards, money orders, and wire transfers. There is a $20.00 processing fee for insufficient check payments

International client payment options: International samples must be prepaid by check (payable to Mass General Brigham Personalized Medicine), credit card, money order, or wire transfer at time of sample submission. Testing cannot begin until payment is received and processed

If you have questions about other forms of pre-payment, please contact our lab. For questions about wire instructions, please contact 617-768-8482 from 9:00 a.m.-5:00 p.m. ET, Monday-Friday.

Final Cancellation policy

If an order is to be cancelled, written notice of cancellation must be received by the LMM before 5:00 p.m. ET the next business day after the sample is received. Acceptable cancellation documentation should be sent as a written request to the laboratory.

Cancellation orders received after that timeframe cannot be honored and the tests will be performed as scheduled, charges incurred, and reports issued.

Please contact us at 617-768-8500 for revision requests and/or to confirm receipt of your cancellation request.

Tests that do not meet financial responsibility criteria will be cancelled 48 hours after sample receipt. Once financial criteria are met, the test will be reaccessioned and processed. If financial responsibility is not established, the test will remain cancelled.

Financial responsibility includes (but is not limited to):

• Self-pay samples without payment
• International samples without payment
• Financially abandoned samples

Our Reporting

At the LMM, we provide comprehensive, accurate, evidence-based reports that are clinically meaningful. We believe that high-quality clinical reports are essential for the integration of genetic knowledge into clinical practice.

Knowledge management and sharing

Our information technology (IT) platform – one of the most advanced systems in the industry – streamlines the management, sharing, and interpretation of vast amounts of genetic data. The system facilitates the process of generating concise, patient specific reports and helps the laboratory continuously improve its variant classification.

Expert team review

Our team of experts analyzes genomic data and then integrates their knowledge with data from scientific literature to develop the clinical report. Each report explains the clinical significance of the often-unique set of variants identified in a patient.

High quality evidence-based reports

Our reporting process ensures that physicians receive the highest-quality, evidence-based clinical report that can be directly applied to patient care.

View a sample clinical report

Our Policies

Below is a list of the LMM policies regarding informed consent and the collection of clinical information. For additional information or to discuss any of our policies in further detail, please contact the lab.

Ordering provider signature

By requesting testing from the LMM, the ordering provider indicates that he/she understands and accepts the policies of the LMM, as noted below, and has communicated these policies to the patient.

• Our testing process includes highly skilled technicians and advanced technology. As in any laboratory, there is a small possibility that the test will not work properly, or an error may occur
• Listed turn-around times (TATs) represent the typical TAT for a test but are not guaranteed
• If the requisition form is incomplete, and the health care provider cannot provide the required information, lab staff may need to contact patient(s) directly to obtain or verify the information needed to complete the form
• Test results, as well as any updates to those results, may become part of a patient’s permanent medical record (electronically or otherwise) or be made available (electronically or otherwise) to the ordering health care institution and its health care team
• Results will only be released to the ordering provider and other providers listed on the requisition form. The ordering provider assumes the responsibility to disclose the test results and direct care as appropriate

Blood or other samples sent to the LMM may be used by Mass General Brigham, by medical organizations connected to Mass General Brigham, or by educational or business organizations approved by Mass General Brigham for research, education, and other activities that support its mission, without your/the patient’s specific consent. Other types of research performed in association with the LMM require that we obtain consent from the patient (see requisition form).

Massachusetts State Law

Each requisition form must contain an ordering provider signature.

Massachusetts State Law requires that:

“A laboratory receiving a request to conduct a genetic test from a facility … may conduct the requested test only when the request is accompanied by a signed statement of the medical practitioner ordering the test warranting that the appropriate prior written consent has been obtained from the patient.”

Download a patient consent form. It does not need to be returned to the LMM

New York State residents only

In addition to the test requisition form, an informed test consent must also be reviewed with the ordering provider and signed by the patient.

Clinical Information

The LMM requests at least a minimal amount of clinical information to define an indication for testing on all patients for which testing is ordered. The LMM requests clinical information to:

• Provide accurate test result interpretations
• Determine if familial variant test results are consistent with variant interpretations
• Provide the best clinical sensitivity data for our tests

If clinical information is not included on the requisition form or provided previously, LMM may contact you to provide this information prior to the reporting of test results.

Genome re-analysis policy

If genome sequencing is performed more than one year ago, LMM will offer indication-based re-analysis free of charge one time.

If genome sequencing was performed less than one year ago for indication-based or any time for non-indication-based genome screening re-analysis cost is below.

• Expanded Genome Screening

  • Price - $1,950
  • CPT code - 81427
  • Test code - WGSpnlHv3_L

• Genome Sequencing - Indication based offering

  • Price - $3,350
  • CPT code - 81427
  • Test code - WGSpnlIv3_L