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

Prenatal Testing

Post-Mortem/Autopsy Testing

Genome Sequencing Service


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.


 

Prenatal Testing Specimens

For prenatal testing requirements, our lab requires:

  • Prenatal Sample
    • Direct: at least 10-15cc OR
    • Cultured: at least one T25 flask (preferred specimen)
  • 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.


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.

Genome Sequencing Service

The Laboratory for Molecular Medicine (LMM) can offer testing for Genome Sequencing. Please contact the lab at 617-768-8500 or lmm@partners.org prior to sending any specimen or to request premade kits.

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

  • Blood (preferred)
    • 4-8mL of whole blood collected in PAXgene Blood DNA tube AND 
    • Preferred tube types include Lavender (K2EDTA or K3EDTA) and Pink (K2EDTA)
    • Important: For PAXgene tubes: Ensure that the PAXgene Blood DNA tube is at room temperature prior to use. After blood collection gently invert the PAXgene Blood DNA tube 8-10 times.
  • 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
    • 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 consent form.
  • Incomplete or missing paperwork may delay the start of testing.