Sample Requirements

The Laboratory for Molecular Medicine (LMM) accepts blood, isolated DNA, saliva, buccal swab, and prenatal samples for testing, though limitations apply to specific tests. Please refer to the type of testing to be performed below.

Diagnostic, Presymptomatic & Carrier Testing

Tumor/Somatic Tissue Testing

Prenatal Testing

Post-Mortem/Autopsy Testing

Diagnostic, Presymptomatic & Carrier Testing Specimens

For all diagnostic and presymptomatic full gene or panel testing (except for tumor/somatic tissue and prenatal testing), sample requirements are:

  • 7ml of whole blood (3-5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA) OR
  • 10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration)
  • Whole blood is required for MLPA testing. DNA samples are NOT accepted.

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

  • 7ml of whole blood (3-5ml for an infant) in a lavender top tube (K2EDTA or K3EDTA) OR
  • 10 ug of DNA at a minimum concentration of 25 ng/ul (please provide DNA concentration) OR
  • A saliva or buccal swab sample. Please contact the lab at 617-768-8500 or lmm@partners.org for collection kits.
  • Whole blood is required for MLPA testing. DNA samples are NOT accepted.
Sample Labeling:
  • Please label sample and requisition form with at least 2 unique patient identifiers (name, date of birth, MRN).
  • Send in sample with completed requisition form and signed patient consent form.
  • Incomplete or missing paperwork may delay the start of testing.

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Tumor/Somatic Tissue Testing Specimens

For tumor/somatic tissue testing, the tissue that can be used includes primary tumor, metastases, or cell block of body cavity fluid. Viable tumor must be present.

Please send:

  • Tissue block (formalin-fixed, paraffin-embedded), which will be returned upon request. If originating hospital policy prevents send-out of tissue blocks, please send 13-15 paraffin-embedded tissue slides and one hematoxylin-eosin stained reference slide.
  • Include a copy of the original pathology report.
  • All samples should be accompanied by a requisition form

Note: If tissue has been saved frozen, this tissue should be saved for one month. If technical problems develop with the fixed tissue analysis, the frozen tissue may be requested. Do not send frozen tissue without prior approval.

Sample Labeling:
  • Please label sample and requisition form with at least 2 unique patient identifiers (name, date of birth, MRN).
  • Send in sample with completed requisition form and signed patient consent form.
  • Incomplete or missing paperwork may delay the start of testing.

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Prenatal Testing Specimens

For prenatal testing requirements, our lab requires:

  • Prenatal Sample
    • Direct: at least 10-15cc OR
    • Cultured: at least one T25 flask
  • Maternal whole blood (7 ml) in a lavender top tube (K2EDTA or K3EDTA)
  • A complete requisition form for each sample
  • A back-up culture should be maintained at an outside facility on both cultured and direct prenatal samples

Please contact the laboratory prior to sending a sample for prenatal testing. The 7ml of maternal whole blood drawn in a lavender top tube (K2EDTA or K3EDTA) must accompany the prenatal sample for the purpose of maternal cell contamination studies. Please use a separate requisition and consent form for this sample. A completed requisition form including date and time of collection, must accompany each sample; the patient or patient's parent or guardian must sign the informed consent statement on the back of the form.

Sample Labeling:
  • Please label sample and requisition form with at least 2 unique patient identifiers (name, date of birth, MRN).
  • Send in sample with completed requisition form and signed patient consent form.
  • Incomplete or missing paperwork may delay the start of testing.

Please go to Prenatal Testing for additional information about ordering.

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Post-Mortem/Autopsy Testing Specimens

The Laboratory for Molecular Medicine (LMM) can offer testing on some Post-Mortem/Autopsy Specimens. Please contact the lab at 617-768-8500 or lmm@partners.org prior to sending any post-mortem or autopsy specimen.

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

  • Blood (preferred)
    • 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 can also 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.
  • Tissue (please send only if blood is not available)
    • Frozen tissue is preferred. Send the sample frozen on dry ice, sample size of 15-20 mm2
    • Examples of successful tissue types: Kidneys, Lung, Heart, Adrenals
    • NO 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.
Sample Labeling:
  • Please label sample and requisition form with at least 2 unique patient identifiers (name, date of birth, MRN).
  • Send in sample with completed requisition form and signed patient consent form.
  • Incomplete or missing paperwork may delay the start of testing.
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