CDKN1C Gene, Full Gene Analysis, Varies
Use
This test is useful for confirming a clinical diagnosis of Beckwith-Wiedemann syndrome, IMAGe syndrome, and Russell-Silver syndrome. It involves full gene sequencing of the CDKN1C gene, which is associated with Beckwith-Wiedemann syndrome, IMAGe syndrome, and Russell-Silver syndrome due to its imprinting behavior, typically expressing only from the maternally inherited allele. It may also help confirm the presence of CDKN1C variants in cases with a strong clinical suspicion when earlier tests are negative.
Special Instructions
For Beckwith-Wiedemann syndrome, the recommended first-tier test is BWRS / Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies. Prenatal testing requires consultation with the laboratory, and all prenatal specimens should be accompanied by a maternal blood specimen. Specimens from hematopoietic stem cell transplants may interfere with testing.
Limitations
The method may not identify large genomic deletions or promoter variants that cause Beckwith-Wiedemann syndrome, IMAGe syndrome, or Russell-Silver syndrome. Absence of a variant does not rule out carrier status or the diagnosis of these syndromes. Errors can occur if specimen information is inaccurate or incomplete, and rare polymorphisms may lead to false results.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 94193-0
- 50397-9
- 82939-0
- 69047-9
- 48767-8
- 31208-2
- 18771-6
Result Turnaround Time
14-20 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |