Specimen Requirements and Shipping Information

DNA Diagnostic Sample Requirements

  • Blood: 2 lavender top (EDTA anticoagulant) tubes of blood (7-10 cc) from each adult. 1 lavender top tube of blood (3-5 cc) for children.
  • DNA: high-quality extracted DNA (minimum 25 micrograms)
  • Label tubes with patient’s full name and date of birth
  • Maintain sample at room temperature (sample stability is approximately 5-7 days)

Cytogenetic Sample Requirements

  • Blood: 2 green top (sodium heparin) tubes of blood (10 cc) from each adult. 1 green top of blood (0.5-3 cc) for infants.
  • Bone Marrow: 1 green top tube of bone marrow (3-5 cc) from each patient
  • Label tubes with patient’s full name and date of birth
  • Maintain sample at room temperature

Prenatal DNA Diagnostic Testing Sample Requirements

For DNA Diagnostic Testing, please send 10 cc maternal blood to rule out maternal cell contamination.

  • CVS:
    10 mg clean, dissected villi in culture medium.
    Alternatively, send only cultured cells. Establish a back-up culture in case of subsequent loss.
  • Amnio (direct):
    20 cc fluid at room temperature.
  • Amnio (cultured cells):
    2 T25 flasks of confluent cells at room temperature.
    Maintain a back-up culture in case of subsequent loss.
  • Products of Conception:
    Prefer liver, lung, pancreas, or spleen in sterile culture medium or saline, and should reach laboratory within 24 hours.

Prenatal Cytogenetic Testing Sample Requirements

  • CVS:
    10 mg clean, dissected villi in culture medium.
    Alternatively, send only cultured cells. Establish a back-up culture in case of subsequent loss.
  • Amnio (direct):
    20 cc fluid at room temperature.
  • Amnio (cultured cells):
    2 T25 flasks of confluent cells at room temperature.
    Maintain a back-up culture in case of subsequent loss.
  • Products of Conception:
    Prefer liver, lung, pancreas, or spleen in sterile culture medium or saline, and should reach laboratory within 24 hours.

AFP/ACHE Screening Sample Requirements

For AFP and/or ACHE/fetal hemoglobin screening, please send 1 cc of amniotic fluid.

In order to accurately report results, the following information must be provided on the accompanying requisition form:

  • Patient name
  • Patient date of birth
  • Date the specimen was obtained
  • Patient’s last menstrual period (LMP)
  • Ultrasound date & gestational age at the time of the ultrasound
  • Referring doctor’s name and address

Maternal Serum Sample Requirements

Maternal serum must be obtained in a red (silicon-coated) or Tiger (red/grey) top tube (5 cc)
In order to accurately report results, the following information must be provided on the accompanying requisition form:

  • Patient name
  • Patient (or Egg Donor) date of birth
  • Date the specimen was obtained
  • Patient’s last menstrual period (LMP)
  • Ultrasound date & gestational age at the time of the ultrasound
  • Referring doctor’s name and address

25(OH) Vitamin D Testing Sample Requirements

  • Blood:  1 red top (silicone-coated) tube (3 cc) from each patient
  • Label tubes with patient’s full name and date of birth
  • Maintain sample at room temperature

Shipping Information

1.  Label all samples with the patient’s full name and date of birth, pack in a sealed plastic bag, and place in a container with sufficient material to absorb the entire volume of the sample if the tube(s) should break to prevent the possible spread of blood-borne pathogens.

2.  Include the appropriate requisition form along with the sample. Please fill in these forms as completely as possible. We must have the name and birth date of the patient, the full name and phone number of the referring physician, the test ordered, ICD-9 diagnosis, sample collection date, and the indication for the testing.

3.  Address all samples to:

Center for Human Genetics, Inc.
Riverside Technology Center
840 Memorial Drive, Suite 101
Cambridge, MA 02139

4.  Send the sealed container by overnight express with priority delivery. DO NOT USE EXPRESS MAIL THROUGH THE POST OFFICE. Send samples to arrive Monday through Friday. Do NOT mail on Friday.

If you have any questions, please call 617-492-7083 or fax 617-492-7092.