Monday, May 27 is Memorial Day. Our lab and all support services will be closed. Kit orders placed on May 27 will be sent on May 28, and all in-transit patient samples will be held by the carrier and received on May 28. If you need assistance, please leave a message at (888) 729-1206 or support@genedx.com and we will respond when we return on May 28.

DNA Requirements

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

DNA Amount Exceptions

List of single gene tests requiring 8 μg of DNA for domestic specimens

Acceptable sourcesTest codeLab method
ANKRD11TB13Capillary Sequencing and Deletion/Duplication Analysis
ATP2C1TA55Capillary Sequencing and Deletion/Duplication Analysis
BCKDHA, BCKDHB, DBT488Next-Gen Sequencing and Deletion/Duplication Analysis
BLMTA79Capillary Sequencing and Deletion/Duplication Analysis
CCM2, KRIT1, PDCD10526Capillary Sequencing and Deletion/Duplication Analysis
CHD7TB21Capillary Sequencing and Deletion/Duplication Analysis
CHD72262Capillary Sequencing
VPS13B (COH1)TA58Capillary Sequencing and Deletion/Duplication Analysis
COL4A5TA64Capillary Sequencing and Deletion/Duplication Analysis
COL7A1TA53Capillary Sequencing and Deletion/Duplication Analysis
ELNTA86Capillary Sequencing and Deletion/Duplication Analysis
FBN1918Deletion/Duplication Analysis and Next-Gen Sequencing
FZD4, LRP5, NDP, TSPAN12J955Exon Array Dx and Sanger/ABI sequencing
GNS, HGSNAT, NAGLU, SGSH610Next-Gen Sequencing and Deletion/Duplication Analysis
HADHA2712Next-Gen Sequencing and Deletion/Duplication Analysis
KDM6A, KMT2DTB04Deletion/Duplication Analysis and Next-Gen Sequencing
NIPBL738Capillary Sequencing and Deletion/Duplication Analysis
NPC1, NPC2581Next-Gen Sequencing and Deletion/Duplication Analysis
NSD1406Capillary Sequencing and Deletion/Duplication Analysis
PHEX1861ECapillary Sequencing and Deletion/Duplication Analysis
RPGRIP1TB25Capillary Sequencing and Deletion/Duplication Analysis
SCN9ATB12Capillary Sequencing and Deletion/Duplication Analysis