Specimen requirements

For neonates (birth to 28 days) and prenatal: one EDTA lavender top tube containing 0.5ml - 2ml of whole blood is needed
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For infants (term babies): one EDTA lavender top tube containing 1ml – 2ml of whole blood is needed



For pediatric and adult patients: one EDTA lavender top tube containing 2ml – 5ml of whole blood is needed


Cord blood can be utilized pre/post-natally - please see cord blood page for specifications 

• Patients who have received an allogeneic (non-self donor) bone marrow transplant or stem cell transplant. DNA from cultured fibroblasts is the required specimen type. Please see the skin punch biopsy or other cultured cells specimen requirement pages for more information. 

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• Patients who have received a blood transfusion within 4 weeks of sample collection. 2-4 weeks of wait time is required for some testing. If testing cannot wait 2-4 weeks, please consider an alternative specimen type per the test order.
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• Blood specimens will be rejected if hemolyzed or clotted. additional samples may be needed if blood specimens is significantly clotted or hemolyzed

Label all samples with:

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• Patient name
  ‍
• Plus a second identifier
  
  • Date of birth
  • Specimen ID
  • Medical record number

The name and 2nd identifier on the specimen label must match what is on the test order.

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Family member samples: blood or buccal samples from biological relatives are required for exome/genome trio and should be appropriately labeled as outlined above with the name of the individual whose sample was collected.

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If cord blood is being used, please see cord blood page for specifications.

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If sample is for a rapid or ultraRapid, and you do not yet have patient labels for the neonate, or if the neonate's label still reference "baby boy" or "baby girl" please ensure that the test order information reflects this as well to avoid delays in testing. for questions regarding neonatal labeling, please reach out to our rapid testing team RapidTesting@GeneDx.com.

Complimentary blood kits are available for US and Canadian clients. To order kits, please visit our supplies page in the provider portal.

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Venipuncture (Blood) Sample Collection Instructions

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Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. In hot weather, a cool pack can be enclosed but is not required.

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If shipping cord blood previously stored in cryobank setting, the specimen must remain frozen and be shipped on dry ice. GeneDx can provide dry ice upon request.



GeneDx-provided sample collection kits contain all required shipping materials and a pre-paid shipping label. If needed, clients can also ship to GeneDx using the contact information below. 


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Contact us


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‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877


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Email: support@genedx.com


Phone: 888-729-1206

• Buccal swabs from patients who have received an allogeneic (non-self donor) bone marrow transplant or stem cell transplant. DNA from cultured fibroblasts is the required specimen type.GeneDx can provide a skin punch biopsy kit and can culture fibroblasts onsite, as needed.
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• Buccal swabs for proband (patient) ultraRapid tests

Loose buccal swabs and dispenser boxes are available for both US and Canadain clients, please contact support@genedx.com to order

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Complimentary buccal swab kits are available for US and Canadian clients. To order kits, please visit our supplies page in the provider portal.

Label all samples with:

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• Patient name
  ‍
• Plus a second identifier
  
  • Date of birth
  • Specimen ID
  • Medical record number


The name and 2nd identifier on the specimen label must match what is on the test order. 


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Family member samples: blood or buccal samples from biological relatives are required for exome/genome trio and should be appropriately labeled as outlined above with the name of the individual whose sample was collected.

Specimens may be held at room temperature before overnight shipping for up to 7 days (preferred) or up to 60 days (manufacturer’s limit). Specimens received after 7 days of storage may impact specimen quality and yield for testing.

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Ship at ambient temperature for overnight delivery with arrival Monday-Saturday. GeneDx provided sample collection kits contain all required shipping materials and a pre-paid shipping label. If needed, clients can also ship to GeneDx using the contact information below.


‍
Contact us


‍
‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877


‍
Email: support@genedx.com


Phone: 888-729-1206

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DNA extracted from:

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• Blood
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• Buccal swabs
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• Skin*
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• Cultured fibroblasts*
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• Fresh and frozen tissue*
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• Dried blood spots*
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*Please note that skin, fresh and frozen tissue and dried blood spots are not acceptable for rapid or ultrarapid testing.


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Note: DNA must be extracted in a CLIA-certified Laboratory OR a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS.

• Formalin-Fixed Paraffin-Embedded (FFPE) Tissue
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• Bone
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• Tumors
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• Lymphatic or vascular malformations
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• Plasma
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• Semen/sperm
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• DNA extracted from blood or buccal in a patient who has received an allogeneic (non-self donor) bone marrow transplant or stem cell transplant.

5 μg (= 5,000 ng) DNA is usually sufficient for any one or two GeneDx tests. DNA content should be determined by fluorometric method with a DNA-specific dye. If using absorbance or other methods, double the amount sent.

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For International Clients: 10 μg (= 10,000 ng) of DNA is the required amount due to difficulty in obtaining additional/replacement specimens if needed.

The ideal specimen has a concentration of ≥50 ng/μl AND a volume of ≥100 μl. Specimens with concentrations over 250 ng/μl or volumes under 20 μl should be diluted before sending to avoid waste.

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For best results, DNA should be dissolved in pH 8.0 TE buffer with low EDTA (10 mM Tris, 0.1 mM EDTA). Excess EDTA can inhibit reactions and must be avoided.

1.7 ml flip-cap microtube, 1.5 ml v-bottom screw cap tube, or 2.0 ml v-bottom skirted tube is preferred.


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Labeling


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Label all samples with:

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• Patient name
  ‍
• Plus a second identifier
  
  • Date of birth
  • Specimen ID
  • Medical record number


The name and 2nd identifier on the specimen label must match what is on the test order. 


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DNA concentration and volume must also be provided on the specimen label.

Ship DNA in sealed and protective packaging at ambient temperature. Frozen DNA is also acceptable; it can be thawed and shipped at ambient temperature.

Ship at ambient temperature for overnight delivery with arrival Monday-Saturday. GeneDx provided sample collection kits contain all required shipping materials and a pre-paid shipping label. If needed, clients can also ship to GeneDx using the contact information below.


‍
Contact us


‍
‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877


‍
Email: support@genedx.com


Phone: 888-729-1206

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• Amniotic Fluid
  
  • Preferred: 30 ml amniotic fluid
  • Minimum: 20 ml amniotic fluid
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• Direct Tissue Samples - chorionic villus sample (CVS), products of conception (POC), or other fetal tissue
  
  • Preferred: 30 mg tissue
  • Minimum: 20 mg tissue
  • If the tissue source is POC, state this clearly and state whether the tissue was fetal or placental in origin
  • Specimens preserved in formalin are not accepted
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• Culture Samples
  
  • (2) T25 flasks of cultured amniocytes
  • (2) T25 flasks of cultured chorionic villi
  • Top cultures off with sterile media immediately before shipping
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• Extracted DNA
  
  • 5 µg DNA extracted from CVS, amniotic fluid, POC, or other fetal sample
  • DNA extracted from formalin fixed tissue is not accepted
  • See DNA Samples tab for more details
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• Percutaneous Umbilical Blood Sample (PUBS) / Cord blood
  
  • Preferred: 1-2 mL blood
  • Minimum: 0.5 mL blood
  • See Cord Blood tab for more details
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Please note:
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• Samples below the minimum amount may be accepted, please contact prenatal@genedx.com in advance to review.
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• If the submitted specimen requires cell culturing, this will delay the start of testing and may extend turnaround time.
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Family Member Samples
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• A blood or buccal sample from the pregnant patient is strongly recommended for all prenatal tests to conduct maternal cell contamination (MCC) studies.
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• Blood or buccal samples from the biological mother and father are required for exome/genome trio.
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• A blood or buccal sample from the relative(s) who is a positive control is required for targeted variant testing.
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Labeling

Label all samples with:
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• Patient name
  ‍
• Plus a second identifier
  
  • Date of birth
  • Specimen ID
  • Medical record number

The name and 2nd identifier on the specimen label must match what is on the test order.

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If the tissue source is product of conception (POC), state this clearly on the label and state whether the tissue was fetal or placental in origin.

All prenatal specimens should be shipped overnight at ambient temperature.

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• Direct chorionic villi or POC specimens should be placed in transport media. GeneDx can provide transport media, if needed.
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• Cultures must be topped off with sterile transport media immediately before shipping.
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• Please contact GeneDx at prenatal@genedx.com to discuss any frozen specimens to determine if they are acceptable.
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• We do not accept any samples fixed in formalin.

Complimentary prenatal kits are available for US clients and can be ordered on the supplies page in the provider portal.

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The Prenatal Amniotic Fluid kits have been designed to support amniotic fluid collection, but can also be used for chorionic villi, or products of conception (POC) specimen collection.

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If transport media is needed for the chorionic villi or POC specimen collection, please email prenatal@genedx.com as the transport media is shipped separately.

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• Transport media can be added directly to the blue top specimen collection tubes provided inside the prenatal amniotic fluid kits.
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• Please note that the media is light sensitive, e.g. fluorescent or direct sunlight. Leave all contents inside the box and minimize light exposure to the media until use.
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Prenatal Amniotic Fluid Kits also include blood collection tubes for parental sample submission. Relative buccal kits can also be stocked in the clinic and can be ordered on the supplies page in the provider portal.

Ship immediately after collection at ambient temperature for overnight delivery with arrival Monday-Saturday.

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• In the event the FedEx pickup cannot happen immediately, please store direct amniotic fluid, direct CVS, or direct POC sample in the refrigerator overnight.
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• In hot weather, a cool pack can be enclosed.
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GeneDx provided sample collection kits contain all required shipping materials and a pre-paid shipping label. If needed, clients can also ship to GeneDx using the contact information below.

‍

Contact us

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Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

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Email: support@genedx.com


Phone: 888-729-1206

GeneDx accepts cord blood samples for the proband (neonate/infant) either pre- or post-natally.

Provide cord blood in an EDTA lavender top tube. Either microtainer or vacutainer tubes are accepted.

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• Preferred: 1-2 ml cord blood
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• Minimum: 0.5 ml cord blood

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Collection

Please follow your institution’s standard procedure for collection of cord blood.

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Labeling

Label all samples with:

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• Patient name
• Plus a second identifier
  
  • Date of birth
  • Specimen ID
  • Medical record number

The name and 2nd identifier on the specimen label must match what is on the test order.

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Cord blood must be labeled “cord blood”. Specific cord blood stickers can be requested by emailing support@genedx.com or by calling 888-729-1206, option 3.

GeneDx can accept frozen or fresh cord blood from a cryobanking facility. If cord blood was frozen – it must remain frozen through the shipping process.

Complimentary kits and cord blood sample stickers are available for US and Canadian clients. To order kits and/or cord blood stickers, please email support@genedx.com or by calling 888-729-1206, option 3..

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Cord blood can be sent using the following kit types:

• Rapid Blood Kit
  
  • To be used for one individual sample only with Rapid tests
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• Trio Rapid Blood Kit
  
  • To be used only with Rapid tests when blood samples from primary patient & 2 relatives must be received together to begin testing.
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• Blood Kit
  
  • To be used for one individual sample

Ship fresh cord blood samples at ambient temperature for overnight delivery with arrival Monday – Saturday.

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Ship frozen cord blood samples from a cryobanking facility using dry ice to ensure the sample remains frozen throughout the shipping process.

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Frozen cord blood must remain frozen throughout shipping to GeneDx to ensure quality results.

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GeneDx provided sample collection kits contain all required shipping materials and a pre-paid shipping label. If needed, clients can also ship to GeneDx using the contact information below.

‍

Contact us

‍

‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

‍

Email: support@genedx.com


Phone: 888-729-1206

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One or two 4mm skin punch biopsies. Biopsies may be collected from any site of healthy skin. One punch typically provides ample DNA for genetic testing; however, a second specimen increases the likelihood of successfully culturing.

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For mosaic skin disorders, be sure to biopsy an affected (lesional) area and always send two punches of 4-6 mm or excised skin of an equivalent area.

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Please note we do not accept affected skin samples for all testing at GeneDx. Please contact us in advance to discuss.

Published turn-around times do not apply for skin punch biopsy specimens due to the time needed to culture fibroblasts. In general, cell culturing adds 2-3 weeks to published turn-around times.

Label all samples with:

‍

• Patient name
  ‍
• Plus a second identifier
  
  • Date of birth
  • Specimen ID
  • Medical record number
    ‍

The name and 2nd identifier on the specimen label must match what is on the test order.

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Include sample processing instructions on your order. For example, if a skin punch biopsy is intended for culture or for direct extraction.

Skin Punch Biopsy Kits are available for US and Canadian clients. To order a kit, please contact us. Kits include an expiration date, typically several weeks from the date of shipment.

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Please note that the media is light sensitive. Leave all contents inside the box and minimize light exposure to the media until use (e.g. minimize prolonged exposure to fluorescent light or direct sunlight).

Skin biopsy specimens must be shipped at room temperature for overnight delivery with arrival Monday – Saturday the same day as the biopsy is performed. For DIRECT DNA ISOLATION only, if shipping must be postponed, biopsies can be flash frozen and shipped frozen at a later time.

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GeneDx provided sample collection kits contain all required shipping materials and a pre-paid shipping label. If needed, clients can also ship to GeneDx using the contact information below.

Contact us

‍

‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

‍

Email: support@genedx.com


Phone: 888-729-1206

For testing of mitochondrial DNA

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Preferred specimens:
Tissue biopsies (muscle or liver)

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• Submit approximately 50 mg
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• Freeze within minutes of collection
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• Store at −80 °C
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• Ship on dry ice via overnight delivery (sample must arrive frozen)
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Fresh (unfixed) solid tissue (biopsy, autopsy, or fetal death specimens)

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Approval required before submission. Please call 888-729-1206 or email support@GeneDx.com

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• Tissue should have a high density of nucleated cells, such as (but not limited to):

  
  
  • Liver
  • Lung
  • Skin
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Isolation of usable DNA is not guaranteed.

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We do not accept the following samples types (including, but not limited to):

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• Formalin-Fixed Paraffin-Embedded (FFPE) Tissue
• Bone
• Tumors (including blood or bone marrow from patient's with leukemia)
• Lymphatic or vascular malformations (including port wine stain)
• Plasma
• Semen/sperm

Clients can ship to GeneDx using the contact information below. We can provide shipping materials, as needed. Please contact us if shipping materials are needed.

‍
Contact us

‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

‍

Email: support@genedx.com


Phone: 888-729-1206

Two sterile T25 flasks near confluence.

Label all samples with:

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• Patient name
  ‍
• Plus a second identifier
  
  • Date of birth
  • Specimen ID
  • Medical record number

The name and 2nd identifier on the specimen label must match what is on the test order. State the tissue or origin on the label as well as on the test order.

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Non-adherent cells such as lymphoid cell lines will be accepted but it is the sender’s responsibility to write “NonAdherent Cells” with bold marker on the flask and paperwork.

Cultures must be topped off with sterile medium immediately before shipping. Always establish and keep backup cultures but do not send them unless requested to do so by GeneDx.

Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. In hot weather a cool pack can be enclosed.

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Clients can ship to GeneDx using the contact information below. We can provide shipping materials, as needed. Please contact us if shipping materials are needed.

‍
Contact us

‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

‍

Email: support@genedx.com


Phone: 888-729-1206

For best results, please send 8 DBS per person (of 10mm diameter, completely filled). If your DBS does not fit these criteria, please contact us before sending the sample to GeneDx.

Patients who have received an allogeneic (non-self donor) bone marrow transplant or stem cell transplant, DNA from cultured fibroblasts is the required specimen type. GeneDx can provide a punch biopsy kit and can culture fibroblasts on site, as needed.

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DBS cannot be used for any rapid or ultraRapid testing as well as mitochondrial DNA testing.

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Labeling

‍

Label all samples with:

‍

• Patient name

‍

• Plus a second identifier
  
  • Date of birth
  • Specimen ID
  • Medical record number

The name and 2nd identifier on the specimen label must match what is on the test order.

The blood on the DBS cards should dry at room temperature for at least 3 hours after collection.

GeneDx does not have a DBS kit. Ideal handling is to ship immediately, after drying, for overnight delivery with arrival Monday-Saturday.

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Clients can ship to GeneDx using the contact information below. We can provide shipping materials, as needed. Please contact us if shipping materials are needed.

‍
Contact us


‍
‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877


‍
Email: support@genedx.com


Phone: 888-729-1206

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For patients with certain hematologic malignancies, blood or buccal specimens may not be recommended for genetic testing. Patients may have white blood cells (leukocytes) circulating that have acquired (somatic) variants in some genes. These variants can impact genetic test results if blood or buccal is used as the specimen type. There may be a risk for false positive or false negative results as well as test failure.

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In some cases, testing DNA from cultured fibroblasts may be recommended. Please note that we require a skin punch for genetic testing if the patient has received an allogeneic (non-self donor) bone marrow transplant or stem cell transplant. In other cases, to assist with specimen recommendations, the clinical team will need information such as:

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• The exact diagnosis (e.g. acute myeloid leukemia or follicular lymphoma).
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• The remission status of the patient.
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• The stage of disease.
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• The course of treatment.
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It is up to the patient’s clinical team to ultimately determine the appropriate sample type for testing. However, when non-ideal sample types are submitted, we may not be able to complete testing.

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DNA from cultured fibroblasts is recommended for the following conditions if there is evidence of active disease:

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• Leukemia (e.g. acute myeloid leukemia, acute lymphoblastic leukemia, chronic lymphocytic leukemia, chronic myeloid leukemia, juvenile myelomonocytic leukemia)
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• Lymphoma that is later stage with bone marrow involvement (e.g. stage 4 non-Hodgkin’s lymphomas)
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• Myelodysplastic syndrome

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Blood or buccal can be considered in the following situations:

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• Patient who has received an autologous (self-donor) bone marrow transplant or stem cell transplant
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• Leukemia in complete molecular remission (MRD - )
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• Myeloma
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• Aplastic anemia, pancytopenia, bone marrow failure (if there is a high suspicion for somatic reversion a skin punch biopsy may be suggested)
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• Early stage non-Hodgkin’s lymphoma (stages 1-3 with no bone marrow involvement) or Hodgkin’s lymphoma
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• Myeloproliferative neoplasms (DNA from cultured fibroblasts would be needed to confirm/rule out a specific somatic finding)

Many GeneDx tests can be performed on DNA from cultured fibroblasts. Please contact us if you have any questions.

Please refer to our specimen requirements pages for details on each specimen type. If a skin punch biopsy kit is needed, please contact us.

‍Contact us


‍
‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877


‍
Email: support@genedx.com


Phone: 888-729-1206

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Many GeneDx tests can be performed on postmortem specimens. Available testing options depend on the type and condition of the specimen.

Refer to our specimen requirements pages for blood, DNA, dried blood spots, and other tissue types.

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Please contact us with the following information before sending samples.

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• What samples are available
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• How the samples were collected and stored
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This information helps determine whether a specimen is suitable for testing.

GeneDx does not offer DNA banking. Providers seeking long-term DNA storage should coordinate with a facility that provides DNA banking services.

Insurance rarely covers postmortem genetic testing, and GeneDx cannot bill insurance for these services. Families may be eligible for financial assistance.

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To discuss billing options:

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Call: 888-729-1206, please select (2) for patient then billing ⁽¹⁾

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Email: billing@genedx.com

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‍Contact us


‍
‍Ship to: GeneDx, 207 Perry Parkway, Gaithersburg MD 20877


‍
Email: support@genedx.com


Phone: 888-729-1206

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