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 |