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  • Rare Disease Testing
  • Single Site Analysis
  • 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)
Test code: D0600
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Test code: D0600
Order Tests

Single-site testing (includes known familial mutations) (per variant)

This test provides analysis and interpretation of a single variant or known familial mutation.

View test information
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
Self (patient) Price $350.00
Institutional Price $350.00
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**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.
Test code: D0600
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Resources
Targeted Testing Requisition Form
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  • Quick links
  • Test information
  • How to order
  • Get help

Test information

  • Test description
  • Indications for testing
  • Test methods and limitations
  • Detailed sample requirements
  • Resources

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
Test Details Page
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
Test Details Page
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.

  • 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
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
Test Details Page
Collection

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.
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
  • 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.
Whole Blood (EDTA) (Preferred Sample)
Test Details Page
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

Targeted Testing Requisition Form

How To Order

Step 1
Choose Your Test

Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.

Step 2
Collect Sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
 

Step 3
Send Samples

Send samples and all required forms back to Revvity for processing using pre-paid shipping label.

Learn More

1. Build Your Custom Panel

Complete the Genomics Gene Tool Form, and a unique test code will be generated for you.

 

2. Complete and print the test requisition

Complete & print the test requisition.

Ensure that:

  • You entered your unique test code from the Genomics Gene Tool
  • All sections are complete
  • Your patient has signed an informed consent
     

3. Collect and Send Patient Sample

Collect patient sample.

  1. Obtain a sample for testing from the patient and confirm that the sample is correctly labeled with the patient's name and date of birth.
  2. Note: if you do not have a Revvity Omics kit available in your office, please email or call us at 1-866-354-2910.

Send patient sample.

Ship your test kit back using the pre-paid shipping label. Remember to include:

✔   Patient sample

✔   Completed informed consent

✔   Test requisition form

✔   Any applicable medical records or clinical notes
 

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