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CYP21A2 Gene Test
CYP21A2 Gene Test
CYP21A2 Gene Test
This test analyzes the CYP21A2 gene, which is associated with 21-hydroxylase deficiency.
| Test Code | D5019 |
|---|---|
| Test Summary |
This test analyzes the CYP21A2 gene, which is associated with 21-hydroxylase deficiency. |
| 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 |
| CPT Codes** | 81405(x1), 81479(x1) |
| Self (patient) Price | $935.00 |
|---|---|
| Institutional Price | $935.00 |
**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
This gene sequencing panel includes both sequencing and deletion/duplication (CNV) analysis for all coding regions of the CYP21A2 gene. Analysis is performed utilizing either LR-PCR followed by NGS sequencing or MLPA. All variants are classified according to American College of Genetics and Genomics (ACMG) guidelines.
Condition description
21-hydroxylase deficiency is a disease that causes excessive androgen production in the adrenal glands. There are three distinct types of 21-hydroxylase deficiency: salt wasting, simple virilizing, and non-classic. The salt wasting form of the disease is the most severe with an age of onset typically in the fetal or neonatal periods and have symptoms of excessive loss of sodium in the urine, poor feeding, weight loss, dehydration, vomiting, ambiguous genitalia in females, small testses in males, an early growth spurt, shorter adult height, decreased ferility, hirsutism in females, irregular menstruation, and male pattern baldness. The simple virilizing form has an age of onset in the fetal or neonatal period, with symptoms of anbiguous genitalia in females, small testes in males, an early growth spurt, shorter adult height, decreased ferility, hirsutism in females, irregular menstruation, and male pattern baldness. The non-classic form has an age of onset in adolesence or adulthood with symptoms of hirsuitism in females, male pattern baldness, irregular menstruation, decreased fertility, early beard growth and small testes in males. The incidence of the salt wasting and simple virilizing forms for 21-hydroxylase deficiency is estimated to be ~ 1 in 15,000. The incidence of the non-classic form of 21-hydroxylase deficiency is estimated to be ~ 1 in 1000.
Genes
Test methods and limitations
CYP21A2 long-range PCR was performed to capture the genomic sequences for the real CYP21A2 gene from this individual’s genomic DNA to prevent the pseudogene from being co-amplified. Next-generation sequencing (NGS) was performed on an Illumina system with 100 base pair paired-end reads. A base is considered to have sufficient coverage at 20X and an exon is considered fully covered if all coding bases plus three nucleotides of flanking sequence on either side are covered at 20X or more. Low coverage regions, if any, are limited to ~1% or less of the nucleotides in the test unless a pathogenic variant explaining the phenotype is discovered. A list of these regions is available upon request. Alignment to the human reference genome (hg19) is performed and annotated variants are identified in the targeted region. Variants are called at a minimum coverage of 8X and an alternate allele frequency of 20% or higher. Indels and Single nucleotide variants (SNVs) are confirmed by Sanger sequence analysis before reporting at the director's discretion. This assay cannot detect variants in regions of the exome that are not covered, such as deep intronic, promoter, and enhancer regions or long repetitive regions. Copy number variation (CNV) analysis was assessed using MLPA. This analysis cannot determine the location or orientation of a duplication. This assay is not designed to detect mosaicism; possible cases of mosaicism may be investigated at the discretion of the laboratory director.
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)
| 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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