| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Test Id : CDKZ
CDKN1C Gene, Full Gene Analysis, Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis
Confirming a clinical diagnosis of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe) syndrome
Confirming a clinical diagnosis of Russell-Silver syndrome following a normal result on methylation analysis and uniparental disomy (UPD) 7 studies.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Reflex Tests
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.
Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.
| Test Id | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FIBR | Fibroblast Culture | Yes | No |
| CRYOB | Cryopreserve for Biochem Studies | No | No |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Method Name
A short description of the method used to perform the test
A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) followed by DNA Sequencing
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Yes
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Lists a shorter or abbreviated version of the Published Name for a test
CDKN1C Gene, Full Gene Analysis
Aliases
Lists additional common names for a test, as an aid in searching
Lists additional common names for a test, as an aid in searching
Beckwith-Wiedemann syndrome (BWS).
BWS (Beckwith-Wiedemann syndrome)
IMAGe syndrome
KIP2
P57
CDKMS
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.
Specimen Type
Describes the specimen type validated for testing
Describes the specimen type validated for testing
Varies
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Specimen Type: Cultured fibroblasts
Container/Tube: T-75 or T-25 flask
Specimen Volume: 1 Full T-75 flask or 2 full T-25 flasks
Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin. Tubes can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin).
Specimen Volume: 4-mm punch
Specimen Stability Information: Refrigerated (preferred)/Ambient
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory
Blood: 1 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Identifies specimen types and conditions that may cause the specimen to be rejected
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies (preferred) | ||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Suggests clinical disorders or settings where the test may be helpful
Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis
Confirming a clinical diagnosis of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe) syndrome
Confirming a clinical diagnosis of Russell-Silver syndrome following a normal result on methylation analysis and uniparental disomy (UPD) 7 studies.
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Provides information that may help with selection of the correct genetic test or proper submission of the test request
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The CDKN1C gene is an imprinted gene that has been associated with Beckwith-Wiedemann syndrome (BWS), intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGe) syndrome, and Russell-Silver syndrome (RSS). Imprinting describes a difference in gene expression based on parent of origin. The majority of autosomal genes exhibit biallelic (maternal and paternal) expression, whereas imprinted genes are normally expressed from only one parent. CDKN1C is typically expressed on the maternally inherited allele.
Beckwith-Wiedemann Syndrome:
BWS is a disorder characterized by prenatal and/or postnatal overgrowth, neonatal hypoglycemia, congenital malformations, and an increased risk for embryonal tumors. Physical findings are variable and can include abdominal wall defects, macroglossia, and hemihyperplasia. The predisposition for tumor development is associated with specific tumor types such as adrenal carcinoma, nephroblastoma (Wilms tumor), hepatoblastoma, and rhabdomyosarcoma. In infancy, BWS has a mortality rate of approximately 20%.
Most cases of BWS are caused by hypomethylation of LIT1, paternal uniparental disomy of chromosome 11, or hypermethylation of H19. Approximately 5% to 10% of sporadic BWS cases and approximately 40% of BWS cases with a positive family history are caused by CDKN1C variants. The appropriate first-tier test in the evaluation of a possible diagnosis of BWS is BWRS / Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome Molecular Analysis, Varies. This test may be considered when the results of BWS methylation analysis are negative, and there is still a strong clinical suspicion of BWS.
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies Syndrome:
Variants in the CDKN1C gene have also been associated with IMAGe syndrome). The CDKN1C variants associated with IMAGe syndrome tend to be missense variants occurring in the PCNA-binding domain of the gene. Not every individual with a clinical diagnosis of IMAGe syndrome will have an identifiable CDKN1C variant.
Russell-Silver Syndrome:
RSS is a rare genetic condition with an incidence of approximately 1 in 100,000. RSS is characterized by pre- and postnatal growth retardation with normal head circumference, characteristic facies, fifth finger clinodactyly, and asymmetry of the face, body, and/or limbs. Less commonly observed clinical features include cafe au lait spots, genitourinary anomalies, motor, speech, cognitive delays, and hypoglycemia.
RSS is a genetically heterogeneous condition that is associated with genetic and epigenetic alterations at chromosome 7 and the chromosome 11p15.5 region. The majority of cases of RSS are sporadic, although familial cases have been reported. The etiology of sporadic cases of RSS includes: hypomethylation of IC1 (H19), maternal uniparental disomy (UPD) of chromosome 7, 11p15.5 duplications (rare), and chromosome 7 duplications (rare).
CDKN1C variants have recently been identified as a cause of RSS in some families. This test may be considered when results of RSS methylation analysis and UPD 7 studies are negative and there is still a strong clinical suspicion of RSS.
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.
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.
Interpretation
Provides information to assist in interpretation of the test results
Provides information to assist in interpretation of the test results
All detected alterations are evaluated according to American College of Medical Genetics and Genomics (ACMG) recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
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 Beckwith-Wiedemann syndrome, intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (IMAGe) syndrome, or Russell-Silver syndrome caused by CDKN1C may have a variant that is not identified by this method (eg, large genomic deletions, promoter variants). The absence of a variant, therefore, does not eliminate the possibility of positive carrier status or the diagnosis of Beckwith-Wiedemann syndrome, IMAGe syndrome, or Russell-Silver syndrome. For carrier testing, it is important to first document the presence of a CDKN1C gene variant 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.
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
Recommendations for in-depth reading of a clinical nature
Recommendations for in-depth reading of a clinical nature
1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424
2. DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP: Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann Syndrome with cancer and birth defects. Am J Hum Genet. 2002;70:604-611
3. Choufani S, Shuman C, Weksberg R: Beckwith-Wiedemann Syndrome. Am J Med Genet. 2010;154C:343-354
4. Romanelli V, Belinchon A, Benito-Sanz S, et al: CDKN1C (p57[Kip2]) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. Am J Med Genet A. 2010;152A:1390-1397
5. Lam WWK, Hatada I, Ohishi S, et al: Analysis of germline CDKNIC (p57[Kip2]) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet. 1999;36:518-523
6. Arboleda VA, Lee H, Parnaik R, et al: Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012;44(7):788-792
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Library of PDFs including pertinent information and forms related to the test
Method Description
Describes how the test is performed and provides a method-specific reference
Describes how the test is performed and provides a method-specific reference
Bidirectional sequence analysis is performed to test for the presence of a variant in all coding regions and intron/exon boundaries of the CDKN1C gene (excluding c.481-c.595).(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Indicates whether the report includes an additional document with charts, images or other enriched information
No
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
14 to 20 days
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
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
Indicates the location of the laboratory that performs the test
Indicates the location of the laboratory that performs the test
Rochester
Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.
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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) 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 US 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 Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81479
88233-Tissue culture, skin or solid tissue biopsy (if appropriate)
88240-Cryopreservation (if appropriate)
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| CDKZ | CDKN1C Gene, Full Gene Analysis | 94193-0 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 53880 | Result Summary | 50397-9 |
| 53881 | Result | 82939-0 |
| 53882 | Interpretation | 69047-9 |
| 53883 | Additional Information | 48767-8 |
| 53884 | Specimen | 31208-2 |
| 53886 | Released By | 18771-6 |
| 53885 | Source | 31208-2 |
Test Setup Resources
Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.
Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.
Normal and Abnormal sample reports are provided as references for report appearance.
SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.