SMA Diagnostic Test

Required DNA Quantity by Test Type*:

• Next Generation Sequencing (NGS): Send >1000 ng total gDNA @ >15 ng/μL. Please ship samples in 10mM Tris. Do not use EDTA.
• Sanger Sequencing: Send >500 ng total gDNA @ >15 ng/μL (varies by the size of the gene and the variants requested).
• Non-Sanger Sequencing Tests: Send >500 ng total gDNA @ >15 ng/μL.

* Required DNA Quality: High molecular weight DNA (>12kb). A260/A280 reading should be ≥ 1.8. A260/230 a ratio range of 1.8 to 2.2. Contact the laboratory for specific amounts if total ng cannot be met.

Ship overnight at ambient temperature.

• Research Laboratories: DNA extracted in research laboratories is not acceptable. Only under exceptional circumstances (e.g., proband not available) will DNA extracted in a research laboratory be accepted for clinical testing. Additional testing (e.g., of other family members) may be required to confirm results.
• Laboratories outside the United States: Non-US laboratories are not subject to CLIA regulations and will be reviewed on a case-by-case basis. Please call to speak with a laboratory genetic counselor before submitting a DNA sample from any non-CLIA-certified laboratory.
• Special Notes: If extracted DNA is submitted, information regarding the method used for extraction should be sent along with the sample.

EDTA (purple top)

Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.

Store at ambient temperature. Do not refrigerate or freeze.

Ship overnight at ambient temperature ensuring receipt within 5-days of collection.

Clotted or hemolyzed samples are not accepted.

Oragene™ Saliva Collection Kit or ORAcollect-Dx kit

Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer's instructions.

Store at ambient temperature. Do not refrigerate or freeze.

Ship overnight at ambient temperature.

Please contact Revvity Omics to request the saliva collection kit for patients who cannot provide a blood sample as whole blood is the preferred sample.

Testing using Saliva swabs is currently not available for customers in India. Contact the Revvity Omics laboratory for more information.

Dried blood spot card

Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.

• NBS: Please contact Revvity Omics to request the StepOne^® kit.
• Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
• For pre-punched DBS: The required minimum is 6 punches
  

Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.

Follow kit instructions. Double bag and ship overnight at ambient temperature.