Clinical sequencing may be ordered only by a physician
To become a registered provider, contact the CSL at firstname.lastname@example.org.
Sample types accepted: Blood or saliva samples may be submitted for analysis.
Blood Specimen Requirements
Collect 2-4 ml of whole blood in EDTA (lavender top) tube. 2 EDTA tubes containing 2-4 ml of whole blood per patient preferred.
For infants, collect a minimum of 1 ml of blood.
Label the specimen with at least two identifiers; patient name and date of birth are preferred.
Ship blood in tubes at room temperature in an insulated container.
Specimen should be submitted within 48 hours of collection. Every attempt will be made to process samples older than 48 hours.
Possible reason for sample rejection: coagulated sample, quantity less than one ml, specimen collected in wrong tube, or unlabeled sample
Saliva Sample Requirements
- Two ml collection of saliva (4 ml total volume) via OraGene kit according to manufacturer’s directions
- Saliva samples may be shipped at room temperature
Once received, DNA will be isolated from the sample. The concentration and integrity of DNA will be evaluated as a quality control measure. Clinical processing of samples dictates very strict guidelines for DNA input amounts (at least 500 ng required to enter whole genome sequencing library preparation) and integrity (intact or only slightly degraded).
Isolated DNA will enter the HudsonAlpha Clinical Services Lab library preparation protocol for whole genome sequencing. Prepared clinical sequencing libraries will be sequenced on the HiSeq X sequencer at 150bp, paired-end. Libraries are sequenced one per lane. Raw reads are then aligned to a reference genome and variants are determined. Our standard coverage is 30x coverage.
DNA Samples are ONLY accepted from CLIA-certified laboratories.
Required: CLIA License Number (Federal and state, if applicable)
• DNA quantitated via spectrometry. Submit a screw cap tube of at least 5ug of purified (PureGene preferred) DNA at a concentration of at least 60ng/ul with a 260/280 purity ratio of 1.75 – 2.0.
• DNA quantitated via fluorometric assay (PicoGreen). Submit a screw cap tube of at least 3ug of purified (PureGene preferred) DNA at a concentration of at least 50ng/ul
• DNA may be shipped at room temperature. Label the specimen with at least two identifiers; patient name and date of birth are preferred. We only accept genomic DNA from CLIA laboratories for testing. We do not accept products of whole genome amplification reactions or other amplification reactions.