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  • Rare Disease Testing
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  • Test of NGS panel

Test of NGS panel

Test of NGS panel
Test code: AR
Test Inquiry
Test code: AR
Test Inquiry

Test of NGS panel

Gene panels for testing different disease-associated genes.
View test information
Test Code AR
Test Summary Gene panels for testing different disease-associated genes.
Acceptable Sample Types Cord Blood , Cultured Amniocytes , Cultured Chorionic Villi , DNA, Isolated , Whole Blood (EDTA)
NY Approved No
*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: AR
Download PDF Version
This test is not available in your region United States, please select your nearest laboratory to request more information.
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Test information

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

Test description

We deliver the ultimate solution with flexible, personalized panel testing. Our test gives you access to thousands of genes and panel combinations for uncompromising customization to uniquely fit patient's needs.

Indications for testing

  • People who has a family history of related systemic genetic disorders.
  • Couples with genetic disorders that require prenatal diagnosis.
  • Couples with symptoms.
  • Who have already given birth to a child with related systemic genetic disorders are preparing to get pregnant again.

Test methods and limitations

Targeted gene panels apply next generation sequencing (NGS) technology to investigate the mutation status of multiple genomic regions of interest simultaneously. The targeted panels include specific regions of the genome that are associated with a disease or phenotype of interest. Gene panels can help researchers discover point mutations, inserts and deletions, copy number variats (CNV) and translocations that could be missed with traditional sequencing techniques.

Detailed sample requirements

Cultured Amniocytes
Test Details Page
SPECIAL SAMPLE INSTRUCTIONS

Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types.

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.
Cultured Chorionic Villi
Test Details Page
Collection Container(s)

Two T-25 flasks

Collection

All prenatal specimens will be tested for maternal cell contamination (MCC). Send maternal blood (EDTA tube) for comparison. If blood is unavailable, we will accept genomic DNA and Saliva sample types.

Sample Condition

Transfer cultured amniocytes or cultured CVS to two T-25 flasks at ≥80% confluence.

Shipping

Cultures topped off with sterile medium and shipped immediately at ambient temperature by overnight express with arrival Monday-Friday only.

SPECIAL SAMPLE INSTRUCTIONS

For prenatal samples, Revvity Omics will provide a shipping label to use for shipping the sample to our lab. Please call 1 (866) 354-2910 to arrange this. At this time, you will also be connected to a laboratory genetic counselor to answer any questions about the testing.

For samples originating outside of the United States, please contact your nearest Revvity Omics laboratory for more information.

Cord Blood
Test Details Page
Collection Container(s)

EDTA (Purple Top) or ACD (Yellow Top)

Collection

Collect 1 to 3 mL of fetal blood.

Sample Condition

Store at ambient temperature. Do not refrigerate or freeze.

Shipping

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

Whole Blood (EDTA)
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.

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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