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Single-site testing (includes known familial mutations) (per variant)
Single-site testing (includes known familial mutations) (per variant)
Single-site testing (includes known familial mutations) (per variant)
This test provides analysis and interpretation of a single variant or known familial mutation.
| Test Code | D0600 |
|---|---|
| Test Summary |
This test provides analysis and interpretation of a single variant or known familial mutation. |
| Turn Around Time | 3 - 5 weeks |
| Acceptable Sample Types | DNA, Isolated , Dried Blood Spots , Saliva , Whole Blood (EDTA) |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | No |
**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
Revvity Sites Globally
Select your location.
Test information
Test description
This test involves targeted sequencing, analysis, and interpretation of a single variant or known familial mutation by an appropriate technology (ex. Sanger sequencing).
Indications for testing
- Known disease causing variant in the family
- Determination of inheritance of a known variant
- Family linkage studies
Test methods and limitations
Only amplification of the regions of the gene in which the targeted variant is located is performed; other regions of the gene are not analyzed. The products are sequenced in the forward and reverse directions. Nucleotide numbering is based on GenBank accession number; nucleotide 1 corresponds to the A of the start codon ATG. This analysis cannot detect single and multi-exon deletions and duplications, or variants in regions not analyzed. This assay is not designed to detect mosaicism; possible cases of mosaicism may be investigated at the discretion of the laboratory director. Variants are evaluated by their frequency as reported in public databases such as the Genome Aggregation Database (gnomAD), Human Gene Mutation Database (HGMD), and ClinVar. Variants that have a frequency greater than expected given the prevalence of disease are considered to be benign. In some cases, due to the complexity of the sequence, not all variants in the flanking intronic regions are able to be analyzed. The interpretation of variants is based on our current understanding of the genes involved. This understanding may change over time as more information becomes available.
Detailed sample requirements
Saliva
| Collection Container(s) |
Oragene™ Saliva Collection Kit or ORAcollect-Dx kit |
|---|---|
| Collection |
Collect saliva on an Oragene™ Saliva Collection Kit ORAcollect-Dx kit according to the manufacturer's instructions. |
| Sample Condition |
Store at ambient temperature. Do not refrigerate or freeze. |
| Shipping |
Ship overnight at ambient temperature. |
| SPECIAL SAMPLE INSTRUCTIONS |
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 Spots
| Collection Container(s) |
Dried blood spot card |
|---|---|
| Collection |
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.
|
| Sample Condition |
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. |
| Shipping |
Follow kit instructions. Double bag and ship overnight at ambient temperature. |
DNA, Isolated
| Collection |
Required DNA Quantity by Test Type*:
|
|---|---|
| Sample Condition |
* 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. |
| Shipping |
Ship overnight at ambient temperature. |
| SPECIAL SAMPLE INSTRUCTIONS |
|
Whole Blood (EDTA) (Preferred Sample)
| Collection Container(s) |
EDTA (purple top) |
|---|---|
| Collection |
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. |
| Sample Condition |
Store at ambient temperature. Do not refrigerate or freeze. |
| Shipping |
Ship overnight at ambient temperature ensuring receipt within 5-days of collection. |
| SPECIAL SAMPLE INSTRUCTIONS |
Clotted or hemolyzed samples are not accepted. |
Resources
How To Order
Choose Your Test
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Collect Sample
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send Samples
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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