Biochemical Specimens
Cytogenetics Specimens
DNA
Specimens
Mitochondrial Specimens
Plasma: Send 1ml plasma (use green top, sodium heparin, tube). Although not required for testing, it is recommended that the sample be taken after a four hour fast. After separation of the plasma, maintain refrigerated and transport on cold packs to the laboratory between 8:00 am and 5:00 pm on the day of collection. Samples can be stored in the freezer overnight for transport the following day. Samples sent to the laboratory via overnight carrier should be sent frozen (freezer packs or dry ice) in an insulated container.
Serum: Send 1ml serum. Although not required for testing, it is recommended that the sample be taken after a four hour fast. After separation of the serum, maintain refrigerated and transport on cold packs to the laboratory between 8:00 am and 5:00 pm on the day of collection. Samples can be stored in the freezer overnight for transport the following day. Samples sent to the laboratory via overnight carrier should be sent frozen (freezer packs or dry ice) in an insulated container.
Cerebrospinal Fluid: Send 1ml CSF. After collection of the CSF, maintain refrigerated and transport on cold packs to the laboratory between 8:00 am and 5:00 pm on the day of collection. Samples can be stored in the freezer overnight for transport the following day. Samples sent to the laboratory via overnight carrier should be sent frozen (freezer packs or dry ice) in an insulated container.
Urine: Send 5-10 mls of random urine. Although not required for testing, it is recommended that the sample be taken from the first morning void to ensure that the specimen is sufficiently concentrated. After collection of the urine, maintain refrigerated and transport on cold packs to the laboratory between 8:00 am and 5:00 pm on the day of collection. Samples can be stored in the freezer overnight for transport the following day. Samples sent to the laboratory via overnight carrier should be sent frozen (freezer packs or dry ice) in an insulated container. Exception: All urines for urine succinylacetone MUST be frozen immediately after collection and maintained frozen or on wet ice at all times due to temperature instability.
Red Blood Cell Enzyme Assays: Draw 3-5 ml in a yellow top (ACD) tube and ship on wet ice in an insulated container by overnight express. Sample must arrive at our location within 48 hrs.
White Blood Cell Enzyme Assays: Draw
7-10 ml in a yellow top (ACD) tube and ship on wet ice in an insulated
container by overnight express. Sample must arrive at our location within
48 hrs.
Cystine in White Blood Cells : Send 7-10 ml
of heparinized blood (green top tube) on wet ice in an insulated
container by overnight carrier. Sample must arrive at our location
within 48 hrs.
Cultured Cells: Two T-25 flasks of confluent cells (skin, amniotic or chorionic villi cells). Send at room temperature in insulated container by overnight carrier.
Liver or Muscle: Send >10 mg of tissue, rapidly frozen following collection. DO NOT add any liquid to the specimen. on dry ice in insulated container by overnight carrier
Tissue Requirements:
- Skin Biopsy:
Biopsy specimens are best taken by punch biopsy to include full thickness of dermis. Biopsy samples should be at least 3mm X 5mm in area. Aseptically place biopsy in a screw-capped, sterile container with sterile culture medium (sterile saline can be used if no media is available) at least 2/3 full. Tightly cap the tube and wrap with parafilm. The tube should be wrapped with packing material to prevent accidental breakage during shipping. The tube should be placed inside a sealable plastic bag before being placed inside the shipping container. - Skin Fibroblast Culture:
Two 90% confluent T-25 culture flasks should be sent and back-up cultures maintained at the referring institution until results are received. Completely fill the two flasks to the base of the neck with media prior to shipping. Tightly cap the flasks and wrap with parafilm. The flasks should be wrapped with packing material to prevent accidental breakage during shipping. The flasks should be placed inside a sealable plastic bag before being placed inside the shipping container.
Two 90% confluent cultures in T-25 flasks should be sent (with a control flask if possible) and back-up cultures maintained at the referring institution until results are obtained. Completely fill the two flasks with media prior to shipping. Tightly cap the flasks and wrap with parafilm. The flasks should be wrapped with packing material to prevent accidental breakage during shipping. The flasks should then be placed inside a sealable plastic bag before being placed inside a shipping container.
Note: All prenatal samples should be shipped at ambient temperature in an insulated container. Please label all samples with name and date of birth with indelible ink. Do not ship specimens on Thursday or Friday unless the laboratory is notified first.
Cytogenetics SpecimensShip at room temperature.
Do not heat or freeze.
Fresh whole blood in Sodium Heparin (green-top) tubes:
Newborn (< 3 months): Minimum 1.0 -2.0 cc
Adult/Child: Minimum 3.0 -5.0 cc
Specimens must be sent the same day as collected and arrive in the laboratory
within 48 hours of venipuncture.
Amniotic Fluid:
Direct: 20-30 cc of fluid collected in two sterile 15 ml conical centrifuge
tubes. Discard the first 2 cc of fluid collected.
Culture: 2 T25 flask grown to 60-70% confluency.
Chorionic Villus: 15 mg in sterile tissue culture media.
Tissue: 3 mm of specimen (skin, placenta, cord) in sterile
tissue culture media.
DNA Specimens:
Blood Specimens: EDTA (purple) tubes; Adult: 14 cc,
Child: 6 cc, Infant: 2-3 cc
Special Requirements for Fetal Specimens:
We require that the referring center consult with us regarding prenatal cases
prior to submitting any samples. For the most accurate fetal results, analysis
of family members is often required. For autosomal recessive conditions,
blood specimens should be submitted from both parents and the affected sibling
for molecular analysis. For autosomal dominant or X-linked conditions, the
high risk parent and the affected relative should be studied. Some disorders
may require analysis of additional family members for precise interpretation
of fetal results. Fetal specimens should be clearly labeled with mother's
full name, type of fetal sample (CVS or amnio), and the fetal sex determined
by cytogenetic data. All fetal studies will be performed two times, on different
assays, on either a direct and then a cultured specimen, or on two separate
cultures. A preliminary report will be sent if results are obtained on the
first study and this will be followed by a final report once the repeat study
is complete. Maternal blood is required for all prenatal tests to rule out
contamination and sample switch. Clearly indicate if ordering cytogenetics
or biochemical studies in addition to DNA
- Amniotic Fluid:
Direct: 10 cc unspun (not applicable for certain tests)
Send: 30 cc for DNA + cytogenetics analysis or cell culturing
Not applicable for Fragile X syndrome, Prader-Willi or Angelman methylation anaylsis.
- Chorionic Villi:
Direct: 10 mg shipped in sterile transport media
Not applicable for Fragile X syndrome, Prader-Willi or Angelman methylation anaylsis
- Culture (Both Amniocytes and CVS):
2 T25 flasks with 100% confluent monolayer cultures
2 T75 confluent flasks needed for DMD/BMD and Factor VIII cases
Contact the laboratory for specific prenatal sample requirements.
Label all specimens with the patient’s full name and date of birth. Enclose a completed mitochondrial requisition form, clinical summary or clinical check list, and signed consent form.
Use FedEX or UPS. for overnight shipment (see below).
Blood: EDTA (purple) tubes; Adults:
14 ml whole blood; Child: 6 ml whole blood; Infants: 2-3 ml whole blood
Ship at room temperature, do not heat or freeze.
Cultured Cells: Four T-25 flasks or 2 T75 of confluent cultured calls. Flasks should be filled completely with medium before shipping at room temperature.
Muscle biopsies: 50 mg for skeletal muscle DNA analysis, 150 mg for skeletal muscle ETC analysis, >200 mg if additional tests are requested. Skeletal muscle and other tissues such as liver and kidney should be snap-frozen at collection, stored at -70°C, and shipped on dry ice, overnight delivery.
Other specimens accepted (for PCR based analysis only): urine sediment (ship with cold pack), hair bulbs, buccal cells, paraffin embedded tissues.