DNA

DNA Requirements

Acceptable Sources: DNA extracted from whole blood, buccal swab, saliva, oral rinse, 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, 5 µg 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 sample if needed.**
Amount Exceptions: For domestic samples, 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 and 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: A minimum of two unique identifiers that match the paperwork MUST be provided on the specimen tube, such as the name/identifier of the person and date of birth. DNA concentration and volume MUST also be provided on the specimen tube.
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 samples

Large Gene(s) Test Code Lab Method
ABCC6 2642 Capillary Sequencing
ANKRD11 TB13 Capillary Sequencing and Del/Dup
ATP2C1 TA55 Capillary Sequencing and Del/Dup
BCKDHA, BCKDHB, DBT (3 genes) 488 Capillary Sequencing and Del/Dup
BLM TA79 Capillary Sequencing and Del/Dup
CACNA1F TB06 Capillary Sequencing and Del/Dup
CCM2, KRIT1, PDCD10 (3 genes) 526 Capillary Sequencing and Del/Dup
CHD7 TB21/2262 Capillary Sequencing and Del/Dup
COH1 TA58 Capillary Sequencing and Del/Dup
COL4A5 TA64 Capillary Sequencing and Del/Dup
COL7A1 TA53 Capillary Sequencing and Del/Dup
CREBBP 2923 Capillary Sequencing and Del/Dup
ELN TA86 Capillary Sequencing and Del/Dup
FBN1 918 Capillary Sequencing and Del/Dup
FEVR Panel (FZD4, LRP5, NDP, TSPAN12) J955 Del/Dup and Sanger/ABI Sequencing
GNS, HGSNAT, NAGLU, SGSH (4 genes) 610 Capillary Sequencing and Del/Dup
HADHA 2712 Capillary Sequencing
JAG1 1004 Capillary Sequencing and Del/Dup
KMT2D TB04 Capillary Sequencing and Del/Dup
NIPBL (Prenatal) 738 Capillary Sequencing and Del/Dup
NPC1/NPC2 581 Capillary Sequencing
NSD1 406 Capillary Sequencing and Del/Dup
PHEX 1861E Capillary Sequencing and Del/Dup
RNASEH2A, RNASEH2B, RNASEH2C, TREX1 (AGS Panel) 547 Capillary Sequencing
RPGRIP1 TB25 Capillary Sequencing and Del/Dup
SCN9A TB12 Capillary Sequencing and Del/Dup
TCOF1 653 Capillary Sequencing Reflex to Del/Dup
TRPM1 TA96 Capillary Sequencing and Del/Dup