To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at support@genedx.com to determine how to proceed.
Acceptable sources
DNA extracted from whole blood, buccal swab, saliva, fresh and frozen tissue, bone marrow, dried blood spots.
*We DO NOT accept DNA from Formalin-Fixed Paraffin-Embedded (FFPE) Tissue. *
**DNA MUST BE EXTRACTED IN A CLIA-certified Laboratory OR a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS.**
Amount
5 μg (= 5,000 ng) DNA is sufficient for any one or two GeneDx tests, regardless of methodology, with exceptions mentioned below. If testing needs to be repeated for technical reasons or if there are an unusual number of positive findings to be confirmed, 5μg may not be sufficient.
*DNA content should be determined by Qubit or other fluorometric method with a DNA-specific dye. If using absorbance or other methods, double the amount sent. *
**For International Clients: 10 μg (= 10,000 ng) of DNA is the required amount due to difficulty in obtaining additional/replacement specimen if needed. **
Amount exceptions
For domestic specimens, refer to the DNA Amount Exceptions table below for list of single gene tests that require a minimum of 8 μg of DNA.
Diluent
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.*
Volume & concentration
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.*
Container
1.7 ml flip-cap microtube, 1.5 ml v-bottom screw cap tube, 0.5 ml v-bottom skirted tube or 2.0 ml v-bottom skirted tube is preferred.
Labeling
Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. Name and 2nd identifier on the specimen label must match what is on the test order. DNA concentration and volume must also be provided on the specimen label.
Stability
Ship DNA in sealed and protective packaging at ambient temperature, using a cool pack in hot weather. Frozen DNA is
also acceptable and should be shipped on dry ice.
Shipping
Ship at ambient temperature for overnight delivery with arrival Monday – Saturday to:
GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
List of single gene tests requiring 8 μg of DNA for domestic specimens
Acceptable sources | Test code | Lab method |
---|---|---|
CCM2, KRIT1, PDCD10 | 526 | Capillary Sequencing and Deletion/Duplication Analysis |
FBN1 | 918 | Deletion/Duplication Analysis and Next-Gen Sequencing |