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CDKN1C Gene, Full Gene Analysis

Reporting Name

CDKN1C Gene, Full Gene Analysis
Seattle Children's Hospital Note:

Clinical System Name: Miscellaneous Test

Useful For

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome

 

Confirming a clinical diagnosis of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (IMAGe) syndrome


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: 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.

 

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

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 [T115]).

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Day(s) and Time(s) Performed

Performed weekly, Varies

Performing Laboratory

Mayo Medical Laboratories in Rochester

Method Name

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

Method Description

Bidirectional sequence analysis is performed to test for the presence of a mutation in all coding regions and intron/exon boundaries of the CDKN1C gene (excluding c.481-c.595).(Unpublished Mayo method)

Reference Values

An interpretive report will be provided.

Test Classification

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

81479-Unlisted molecular pathology procedure

 

Fibroblast Culture for Genetic Test

88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88240-Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CDKZ CDKN1C Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
53880 Result Summary 50397-9
53881 Result In Process
53882 Interpretation In Process
53883 Additional Information 48767-8
53884 Specimen 31208-2
53885 Source 31208-2
53886 Released By No LOINC Needed

Testing Algorithm

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Reject Due To

Note: No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. If questions, contact laboratory.

Forms

1. Molecular Genetics: Congenital Inherited Diseases Patient Information (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 (T576) is available in Special Instructions.