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Elevated C4 Panel
Elevated C4 Panel
Elevated C4 Panel
This test analyzes genes associated with elevated C4.
| Test Code | D4537 |
|---|---|
| Test Summary |
This test analyzes genes associated with elevated C4. |
| Turn Around Time | 2 - 3 weeks |
| Acceptable Sample Types | DNA, Isolated , Dried Blood Spots , Saliva , Whole Blood (EDTA) |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| NY Approved | No |
| CPT Codes** | 81404(x1), 81405(x1), 81479(x2) |
| Self (patient) Price | $250.00 |
|---|---|
| Institutional Price | $950.00 |
**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 information
Test description
Condition description
Elevated C4 is associated with isobutyryl-CoA dehydrogenase deficiency, short-chain acyl-CoA dehydrogenase deficiency, and ethylmalonic encephalopathy. Isobutyryl-CoA dehydrogenase deficiency is a disease that causes an inability to break down the amino acid valine. Most individuals with isobutyryl-CoA dehydrogenase deficiency are asymptomatic, but those who present in childhood can have dilated cardiomyopathy, hypotonia, developmental delay, and anemia. The incidence of isobutyryl-CoA dehydrogenase deficiency is unknown. Short-chain acyl-CoA dehydrogenase deficiency is a disease that prevents the body from burning certain fats. The age of onset is in infancy, and symptoms typically include vomiting, hypoglycemia, lethargy, poor feeding, failure to thrive, hypotonia, seizures, developmental delay, and small head size. The disease can be well managed with a strict diet and avoiding periods of fasting. The incidence of short-chain acyl-CoA dehydrogenase deficiency is estimated to be ~ 1 in 35,000. Ethylmalonic encephalopathy is a disease that impairs energy production in mitochondria. Age of onset is typically in the neonatal period, and symptoms include developmental delay, developmental regression, hypotonia, seizures, abnormal movements, petechiae, acrocyanosis of the hands and feet, and chronic diarrhea. Death usually occurs in early childhood. The incidence of ethylmalonic encephalopathy is unknown.
Genes
Test methods and limitations
Detailed sample requirements
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. |
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. |
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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