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  • Isovaleric Acidemia Mutation Panel

Isovaleric Acidemia Mutation Panel

Isovaleric Acidemia Mutation Panel
Test code: D0409
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Test code: D0409
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Isovaleric Acidemia Mutation Panel

This assay tests for 1 variant in the IVD gene, which is associated with isovaleric acidemia.

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Test Code D0409
Test Summary

This assay tests for 1 variant in the IVD gene, which is associated with isovaleric acidemia.

Turn Around Time 3 - 5 weeks
Acceptable Sample Types DNA, Isolated
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
CPT Codes** 81400(x1)
Self (patient) Price $148.50
Institutional Price $148.50
*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: D0409
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Resources
General Biochemical and Molecular Requisition Form
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Test information

  • Test description
  • Condition description
  • Test methods and limitations
  • Detailed sample requirements
  • Resources

Test description

This test detects the p.A282V variant in the IVD gene.

Condition description

Isovaleric acidemia is a disease that prevents the body from breaking down the amino acid leucine. The onset is typically in early infancy and includes symptoms of a distinctive odor, poor feeding, vomiting, seizures, lethargy, organic acidemia, organic aciduria, coma, and premature death. Later onset of the disease is associated with symptoms of failure to thrive and developmental delay. The condition can be managed with a strict diet. The incidence of isovaleric acidemia is estimated to be ~ 1 in 250,000.

Test methods and limitations

Gene analysis for the various targeted mutations is performed by polymerase chain reaction and melting curve analysis to detect the mutant and wild-type forms of the gene. Sequence-specific oligonucleotide probes are labeled with fluorescent dyes, which hybridize to their complementary sequence target in PCR products. The fluorescence resonance energy transfer (FRET) from one fluorophore to another adjacent fluorophore is measurable and is directly proportional to the amount of target DNA generated during PCR. Allele-specific melting curves are generated by slow thermal denaturing of the probe: template hybrid. Melting curves are generated by monitoring fluorescence throughout denaturation, and melting peaks are generated by plotting the inverse derivative of fluorescence versus temperature (−dF/dT).

Detailed sample requirements

DNA, Isolated (Preferred Sample)
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.

Resources

General Biochemical and Molecular 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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