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HelpBone Marrow Failure Syndrome Panel
Clinical System Name
Miscellaneous Genetic Test
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender/EDTA
Preferred Vol: 3.0 mL
Minimum Vol: 1.0 mL
Specimen: DNA
Container(s): Sterile Plastic Tube
Preferred Vol: Extracted DNA, min. 2 μg in TE buffer or equivalent
Minimum Vol: 2 μg
Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing
Note: Hematologic diseases may complicate the interpretation of next generation sequencing (NGS) results if the tested DNA sample is isolated from tissues containing leukocytes (blood, saliva, oral rinse and buccal swabs) as DNA alterations may represent somatic variants within the patients affected tissue. Therefore, we recommend using DNA extracted from cultured skin fibroblasts as source of germline DNA.
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 4 C
Storage Location: CPA refrigerator, Send Outs rack
Off-site collection: Send sample refrigerated to Seattle Children's Main Lab. It is preferable that the sample is received by Seattle Children's Main Lab within 5 days from the date of collection.
Stability
| Specimen Type | Temperature | Time |
| Whole Blood | Room temp | 3 d |
| Refrigerated | 7 d | |
| Frozen | Unacceptable | |
| Extracted DNA | Room temp | 3-4 d |
| Refrigerated | 1y | |
| Frozen | Indefinitely |
Availability
| STAT | Performed | TAT |
| N | Daily | 4 w |
Performing Laboratory
Blueprint Genetics
2505 3rd Ave, Suite 204
Seattle, WA 98121
Phone Number: (650) 452-9340
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
Method: Next-Generation Sequencing
Special Instructions
Send Out Instructions
| Reference Test Name: |
Bone Marrow Failure Syndrome Panel |
| Reference Test Code: | HE0801 |
| Instructions: | Send whole blood Monday through Friday to Blueprint Genetics via Delivery Express (Rush). |