Autosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Diagnosis of individuals suspected of having autosomal recessive polycystic kidney disease
Prenatal diagnosis if there is a high suspicion of ARPKD based on ultrasound findings
Carrier testing of individuals with a family history of ARPKD but an affected individual is not available for testing or disease-causing mutations have not been identified
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
|Test ID||Reporting Name||Available Separately||Always Performed|
|FBC||Fibroblast Culture for Genetic Test||Yes||No|
|AFC||Amniotic Fluid Culture/Genetic Test||Yes||No|
|MCC||Maternal Cell Contamination, B||Yes||No|
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
For prenatal specimens only: If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Polymerase Chain Reaction (PCR) Followed by DNA Sequencing Analysis
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
ARPKD Mutation Screen
Polycystic Kidney Disease (PKD)
Polycystic Kidney Disease (PKD)
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
1. Molecular Genetics-Congenital Inherited Diseases Patient Information Sheet (Supply T521) in Special Instructions
2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
3. If not ordering electronically, submit a Molecular Genetics Request Form (Supply T245) with the specimen.
Patient education brochures in English (Supply T548) and Spanish (Supply T563) are available upon request.
Specimen must arrive within 96 hours of collection.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Prenatal specimens can be sent Monday through Thursday and must be received by 5 pm CST on Friday in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MCC/88636 Maternal Cell Contamination, Molecular Analysis on the maternal specimen.
Specimen Type: Amniotic fluid
Container/Tube: Amniotic fluid container
Specimen Volume: 20 mL
Specimen Stability Information: Refrigerated (preferred)/Ambient
Specimen Type: Chorionic villi
Container/Tube: 15-mL tube containing 15-mL of transport media
Specimen Volume: 20 mg
Specimen Stability Information: Refrigerated
Specimen Type: Confluent cultured cells
Container/Tube: T-25 flask
Specimen Volume: 2 flasks
Collection Instructions: Submit confluent cultured cells from another laboratory.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Blood: 1 mL/Amniotic Fluid: 10 mL/Chorionic Villi: 5 mg
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Autosomal recessive polycystic kidney disease (ARPKD) is a disorder caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. The incidence of ARPKD is approximately 1:20,000 and the estimated carrier frequency in the general population is 1:70. ARPKD is characterized by enlarged echogenic kidneys, congenital hepatic fibrosis, and pulmonary hypoplasia (secondary to oligohydramnios [insufficient volume of amniotic fluid] in utero). Most individuals with ARPKD present during the neonatal period, and of those, nearly one third die of respiratory insufficiency. Early diagnosis, in addition to initiation of renal replacement therapy (dialysis or transplantation) and respiratory support, increases the 10-year survival rate significantly. Presenting symptoms include bilateral palpable flank masses in infants and subsequent observation of typical findings on renal ultrasound, often within the clinical context of hypertension and prenatal oligohydramnios. In rarer cases, individuals may present during childhood or adulthood with hepatosplenomegaly. Of those who survive the neonatal period, one third progress to end-stage renal disease and up to half develop chronic renal insufficiency.
The PKHD1 gene maps to 6p12 and includes 67 exons. The PKHD1 gene encodes a protein called fibrocystin, which is localized to the primary cilia and basal body of renal tubular and biliary epithelial cells. Because ARPKD is an autosomal recessive disease, affected individuals must carry 2 deleterious mutations within the PKHD1 gene. Although disease penetrance is 100%, intrafamilial variation in disease severity has been observed. Mutation detection is often difficult due to the large gene size and the prevalence of private mutations that span the entire length of the gene.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
An interpretative report will be provided.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
A small percentage of individuals who are carriers or have a diagnosis of autosomal recessive polycystic kidney disease (ARPKD) may have a mutation that is not identified by this method (eg, large genomic deletions, promoter mutations). The absence of a mutation(s), therefore, does not eliminate the possibility of positive carrier status or the diagnosis of ARPKD. For carrier testing, it is important to first document the presence of a polycystic kidney and hepatic disease 1 (PKHD1) gene mutation in an affected family member.
In some cases, DNA alterations of undetermined significance may be identified.
Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.
A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Guay-Woodford LM, Desmond RA: Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics 2003;111:1072-1080
2. Gunay-Aygun M, Avner E, Bacallao RL, et al: Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr 2006;149:159-164
3. Harris PC, Rossetti S: Molecular genetics of autosomal recessive polycystic kidney disease. Mol Genet Metab 2004;81:75-85
Method Description Describes how the test is performed and provides a method-specific reference
DNA sequencing is utilized to test for the presence of mutations in 66 exons (exon 2-67) of the polycystic kidney and hepatic disease 1 (PKHD1) gene. (Unpublished Mayo method)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Wednesday; 10 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Whole Blood: 2 weeks (if available) Extracted DNA: 3 months
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
81479-Unlisted molecular pathology procedure
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|27370||Reason For Referral||42349-1|