PKD1/PKD2 Del/Dup Testing by MLPA
| Test Code | D5022 |
|---|---|
| Test Summary | This assay detects copy number changes in PKD1 and PKD2 as well as TSC2/PKD1 contiguous gene syndrome, which are associated autosomal dominant polycystic kidney disease (ADPKD). |
| Turn Around Time | 10 - 12 days |
| Acceptable Sample Types | Cultured Cells - AF , Cultured Cells - CVS , Cultured Chorionic Villi , DNA, Isolated , Products of Conception , Saliva , Whole Blood (EDTA) |
| Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
| 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.
**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.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
Test Code:
D5022
Test Description
Multiplex Ligation-Dependent Probe Amplification (MLPA) enables the detection of deletion and duplications of single and multiple exons within a given gene (PMID: 20938835). It is a semi-quantitative technique to determine relative copy number using a multiplex PCR-based reaction. Only hybridized and ligated adjacent probe oligonucleotides are amplified by PCR, and thus are specific for the sequence of interest. This test involves copy number analysis of PKD1, PKD2, and TSC2 exons 36, 38 and 42.
The MLPA analyses may not detect certain genomic rearrangements, such as translocations, inversions, or some partial exon rearrangements. This assay cannot determine exact breakpoints of deletions or duplications detected. This assay is limited to detect deletions and/or duplications in the region of the probes covered (SALSA MLPA P351-D1 PKD1 probemix and P351-E1 PKD1-PKD2 probemix).
Condition Description
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder. It occurs in 1/400 to 1/1,000 individuals worldwide and approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. ADPKD is caused by heterozygous pathogenic mutations in either the PKD1, PKD2, or one of the less common associated genes (ALG5, ALG9, DNAJB11, GANAB, IFT140) (PMID: 20301424). Most patients carry a defect in PKD1 (~78%) or PKD2 (~15%). Patients with a PKD1 mutation, especially those with truncating mutations, generally have a more rapidly progressive disease with an earlier onset of ESRD than patients with a PKD2 mutation. It is estimated that ~3% of the PKD1 and PKD2 mutations are deletions or duplications (PMID: 25263802).
TSC2/PKD1 contiguous gene deletion syndrome is a disorder in which the phenotypes of tuberous sclerosis complex and ADPKD are combined. Tuberous sclerosis complex is a neurocutaneous disorder that involves abnormalities of the skin, brain, kidney, heart and lungs. When combined with ADPKD, it is characterized by a very early onset of severe polycystic kidney disease, that is diagnosed in utero or in infancy. The PKD1 gene lies directly adjacent to the TSC2 gene in a tail-to-tail orientation. Large PKD1 deletions that also disrupt the adjacent TSC2 gene result in TSC2/PKD1 contiguous gene deletion syndrome (PMID: 18818683).
TSC2/PKD1 contiguous gene deletion syndrome is a disorder in which the phenotypes of tuberous sclerosis complex and ADPKD are combined. Tuberous sclerosis complex is a neurocutaneous disorder that involves abnormalities of the skin, brain, kidney, heart and lungs. When combined with ADPKD, it is characterized by a very early onset of severe polycystic kidney disease, that is diagnosed in utero or in infancy. The PKD1 gene lies directly adjacent to the TSC2 gene in a tail-to-tail orientation. Large PKD1 deletions that also disrupt the adjacent TSC2 gene result in TSC2/PKD1 contiguous gene deletion syndrome (PMID: 18818683).
Test Methods and Limitations
MLPA-based assay for the detection of deletions/duplications in the PKD1/PKD2 genes. The MRC-Holland reagent kits and the Applied Biosystem 3730xl DNA Analyzer instrument are used to generate fragment analysis data.
Detailed Sample Requirements
Cultured Cells - CVS
| Special Sample Instructions | Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types. |
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Cultured Chorionic Villi
| 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. |
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. |
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. |
Cultured Cells - AF
| Special Sample Instructions | Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types. |
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Products of Conception
| Collection Container(s) | Sterile, screw-top container filled with tissue culture transport medium. |
|---|---|
| Collection | All prenatal specimens will be tested for maternal cell contamination (MCC). Send maternal blood (EDTA tube) for comparison. Transport products of conception and/or fresh tissue (minimum: 10 mg) in a sterile, screw-top container filled with tissue transport medium. Do not place in formalin. If the specimen is too large for a normal collection tube, a larger sterile container can be used. |
| Sample Condition | If the autopsy is performed: Facia lata, diaphragm, tendon, skin, tissue from internal organs (if fresh), chest wall cartilage (particularly if macerated), or placenta from fetal side. If no autopsy is performed: Placenta from fetal side is preferred, e.g., villi. Umbilical cord is also acceptable. State clearly in the TRF whether the tissue was of fetal or placental in origin. |
| Shipping | Shipped immediately at ambient temperature or with a cold pack, especially under hot weather to the laboratory by overnight express with arrival Monday-Friday only. Alternatively, fresh POC and/or tissue samples can be snap-frozen and kept at -80°C. Frozen tissue samples should be shipped overnight on dry ice with arrival Monday-Friday only - NO WEEKEND SHIPMENTS! |
| 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. |
DNA, Isolated
| Collection | Required DNA Quantity by Test Type*:
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|---|---|
| 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 |
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